Hasil untuk "Diseases of the genitourinary system. Urology"

Shunsuke Miyamoto, Tomoya Hatayama, Hiroyuki Shikuma et al.

Objective: To assess the safety and effectiveness of urological tumor surgeries using the hinotori™ Surgical Robot System (hinotori) in a real-world clinical setting. Methods: All surgeries including robot-assisted radical prostatectomy (RARP), robot-assisted partial nephrectomy (RAPN), robot-assisted radical nephrectomy (RARN), robot-assisted nephroureterectomy (RANU), robot-assisted adrenalectomy (RAA), and robot-assisted radical cystectomy with intracorporeal urinary diversion (RARC+ICUD) for urological tumors with the hinotori and da Vinci surgical system (da Vinci) from January 2022 to September 2023 were enrolled. We evaluated the safety and effectiveness of surgeries using the hinotori compared with those using the da Vinci. Results: Robotic surgeries using the hinotori were performed in a total of 91 cases, comprising 42 cases of RARP, 18 cases of RAPN, six cases of RARN, 10 cases of RANU, 13 cases of RAA, and two cases of RARC+ICUD; no major intraoperative complications were observed in any of the cases using the hinotori; no major postoperative complications occurred in any of the cases; no case experienced an unrecoverable equipment error during surgery. Meanwhile, robotic surgeries using the da Vinci were performed in a total of 277 cases, comprising 126 cases of RARP, 94 cases of RAPN, 12 cases of RARN, 10 cases of RANU, 20 cases of RAA, and 15 cases of RARC+ICUD; major intraoperative complications occurred in two cases; major postoperative complications occurred in seven cases; seven cases required transfusion; one case underwent conversion to open surgery; during the study period, no case experienced an unrecoverable equipment error. Surgical outcomes for cases with the hinotori were comparable to those with the da Vinci. Conclusion: This study demonstrated that the hinotori is a safe and feasible tool for robotic surgeries in the field of urology.

Rocio Roldan-Testillano, Rafael Sanchez-Salas

Yu-Ming Shen, Pao-Hwa Chen

Abstract Background Simultaneous bilateral percutaneous nephrolithotomy (PCNL) offers the advantage of treating stones in both kidneys, thereby reducing the need for multiple surgeries. Due to the limited number of cases, simultaneous PCNL has unwarranted safety and efficacy concerns. This study aimed to evaluate the complications and stone-free rates of simultaneous bilateral PCNL in the treatment of bilateral large complex stones and to compare different access methods. Method Between January 2012 and December 2022, 36 consecutive patients who underwent simultaneous bilateral PCNL for large complex renal stones were enrolled. Guy’s stone score (GSS) was used to assess the complexity of stone. The preoperative, intraoperative, and post-operative parameters were assessed. The patients were first categorized based on channel size (conventional vs. mini-PCNL), and then further sub-grouped according to specific combinations of tract size and dilation method for comparative analysis. Results Thirty-six consecutive patients (72 renal units) underwent simultaneous bilateral PCNL. The median stone burden was 602.43 mm2 (interquartile range: 225–1332.72 mm2), mean surgical duration was 70.9 ± 29.6 minutes for each renal unit (range, 30–140 minutes), and the mean hematocrit reduction was 6.8±8.4%. The mean length of stay was four days, and the stone-free rate was 81.9%. Notably, eGFR (estimated Glomerular filtration rate) values showed significant improvement at one-year follow-up (p < 0.001), with 29.4% of patients showing clinical downstaging. The overall complication rate was 16.7%, with the majority of complications being transient fever. Mini-PCNL had a shorter length of stay (p < 0.05). The complication rates for Amplatz, balloon, and mini-PCNL were 13.3%, 23.1%, and 12.5%, respectively. The post-operative radiographic stone-free rate (SFR) for 72 renal units was 81.9%, with the highest rate in the mini-PCNL group (93.7%). Conclusions There was no increase in the rate of complications compared to unilateral PCNL. This study provides valuable insights into surgical outcomes using different access methods.

J. Dunne, D. Foo, J. Jancey et al.

Short interpregnancy intervals (IPIs) of <6–18 months are associated with adverse maternal and child outcomes. This study aimed to identify the individual, relationship, community, and societal factors that influence short IPIs in high-income countries. A comprehensive search was undertaken in CINAHL Plus, Ovid/EMBASE, Ovid/MEDLINE, Ovid/PsycINFO, ProQuest, PubMed, Scopus, Web of Science, and Google Scholar for articles published in English from 1st January 1990 to 26th October 2023. Studies were included if they reported an effect estimate of at least one determinant of pregnancy spacing in a high-income country. The quality of the included studies was assessed using the Johanna Briggs Institute Critical Appraisal Tool and Cochrane Risk Assessment Tool. Multi-level factors at the individual, relationship, community, and societal level were systematically identified through the socio-ecological model. This study is registered with PROSPERO (CRD42020176311). Of 2005 unique articles, 220 were identified for full-text review, and 55 met the inclusion criteria representing a total of 27,103,055 women from 13 high-income countries. All the included studies were deemed to be of moderate to high quality. Most of the studies reported determinants of short IPI at the individual level, with non-use of contraception the most common reported factor. Peer influence was a factor at the relationship level, and access to health care and reproductive services were impactful at the community and societal levels, respectively. Future research and efforts should support the development and implementation of policies and practices that support optimum pregnancy spacing from a comprehensive socio-ecological position.

Trevor D. Hunt, Ronald Rabinowitz

Introduction Urology was one of the first subspecialties in medicine to employ the training model known today as residency, yet no definitive account currently exists of how urology residency programs came into existence. These events are rarely taught in formal urologic curricula. It is imperative that tomorrow’s urologists understand how today’s system came to be. Sources and Methods We performed a comprehensive review of the literature, referencing primary and secondary sources including journal articles, books, textbook chapters, monographs, bulletins, editorials, and transcribed speeches, to compile sufficient evidence to complete this historical review. Results During the 13th-18th centuries, surgical training was undertaken in small and non-regulated apprenticeships. Napoleon created the first versions of the residency training model in early 1800s France. In Berlin, Bernhard von Langenbeck (1810-1887) devised the most direct early predecessor of the modern system. An early trainee, Theodor Billroth (1829-1894) later mentored American surgeon William Halsted (1852-1922) and passed along the training methods. At Johns Hopkins Hospital, Halsted drew on Billroth’s methods to establish the “pyramidal” training model in 1890. This was later adapted by Edward Churchill (1895-1972) at Massachusetts General Hospital into the “rectangular” structure in the 1930s, which is closer to existing residency programs today. Hugh Hampton Young (1879-1944), the ‘Father of American Urology’, was hired by Halsted at Hopkins and quickly became Chair of the Department of Genitourinary Diseases in 1897. Young informally recommended aspiring urologists to Halsted for appointment in the surgical residency, spawning the beginnings of the urologic specialty. In 1915, the Brady Urological Institute opened at Hopkins via a donation from Young’s patient James Buchanan Brady (1856-1917), and a 7-year training program was designed alongside it. With this, the first formal urology residency in the country was born. Conclusions American urology residency formally began in 1915 at Johns Hopkins Hospital under the direction of Hugh Hampton Young and shares deep roots with the history of surgery itself. Recognizing where this training model originated is a critical context for all who seek to improve how the urologists of tomorrow are trained.

Gabriel Rotsen Fortes Aguiar, Geraldo Bezerra da Silva Júnior, Janaína de Almeida Mota Ramalho et al.

Abstract Arboviruses are endemic in several countries and represent a worrying public health problem. The most important of these diseases is dengue fever, whose numbers continue to rise and have reached millions of annual cases in Brazil since the last decade. Other arboviruses of public health concern are chikungunya and Zika, both of which have caused recent epidemics, and yellow fever, which has also caused epidemic outbreaks in our country. Like most infectious diseases, arboviruses have the potential to affect the kidneys through several mechanisms. These include the direct action of the viruses, systemic inflammation, hemorrhagic phenomena and other complications, in addition to the toxicity of the drugs used in treatment. In this review article, the epidemiological aspects of the main arboviruses in Brazil and other countries where these diseases are endemic, clinical aspects and the main laboratory changes found, including changes in renal function, are addressed. It also describes how arboviruses behave in kidney transplant patients. The pathophysiological mechanisms of kidney injury associated with arboviruses are described and finally the recommended treatment for each disease and recommendations for kidney support in this context are given.

Elham Alipoor, Shiva Salehi, Sahar Dehghani et al.

Abstract Introduction Asymmetric dimethylarginine (ADMA), a cardiovascular risk factor, increases in renal failure. The aim of this study was to investigate ADMA levels in normal weight and obese patients on hemodialysis. Methods In this cross-sectional study, 43 normal weight and 43 obese patients on regular hemodialysis were examined. Malnutrition-inflammation score (MIS), anthropometry, circulating ADMA, lipid profiles including triglycerides (TG), total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL) and lipid ratios, glucose homeostasis parameters, blood pressure, and high-sensitivity C-reactive protein (hs-CRP) were assessed. Results Serum levels of ADMA were significantly lower in the obese compared to the normal weight patients (10268.2 ± 10092.4 vs. 13765.2 ± 9951.3 ng/l, P = 0.03). At the same time MIS score (6.1 ± 2.4 vs. 10.7 ± 3.2, P < 0.001), systolic blood pressure (119 ± 26.8 vs. 134.2 ± 24.7 mmHg, P = 0.018) and mean arterial pressure (91.3 ± 18.6 vs. 100.9 ± 15.9 mmHg, P = 0.028) were significantly lower in the obese than the normal weight group. Fasting blood glucose (P = 0.045), TG/HDL (P = 0.03), TC/HDL (P = 0.019), and LDL/HDL (P = 0.005) ratios, and hs-CRP (P = 0.015) levels were significantly higher in the obese than in the normal weight group. Conclusion Circulating ADMA was significantly lower in obese than in normal weight patients on hemodialysis, which was concomitant with lower MIS, indicating a better nutritional inflammatory status, and lower blood pressure.

Desiree Louise Draeger, Oliver W. Hakenberg

BackgroundTriple-drug cisplatin- and taxane-based chemotherapy is the standard treatment for metastatic penile squamous cell cancer (PeSCC), with a moderate response rate of 30% to 38%. Relapse after first-line chemotherapy has a poor prognosis and there is no established second-line treatment. Mitomycin C (MMC) is used as an effective chemotherapy in squamous cell carcinoma of other localities. We therefore used MMC as a single agent for the second-line treatment for patients with advanced PeSCC.MethodsNine patients [median age 63 years (range 31 years–81 years)], who, after inguinal and pelvic lymphadenectomy and progression after first-line chemotherapy, received second-line treatment with 20 mg of MMC administered intravenously and weekly, were included in this study. The median number of cycles of MMC was 6 (range 2–12 cycles) and the median cumulative dose was 120 mg absolute (range 40 mg absolute–240 mg absolute). The patients’ toxicity and treatment responses were evaluated, with the latter evaluated using 18F-FDG-PET/CT.ResultsCommon Terminology Criteria for Adverse Events (CTCAE) grades 3 or 4 thrombocytopenia and grades 2 or 3 leukopenia occurred in all patients, as did anemia. In seven patients, the application interval had to be extended due to thrombocytopenia. Stable disease was achieved in two patients, and all others progressed under treatment. Seven patients died of the disease, with most patients dying 6 months after starting MMC therapy. Of the two patients who responded with disease stabilization, one died of progressive disease 14 months after MMC treatment. The other responding patient has been stable for over 1 year and is still receiving treatment, which he tolerates well, and has a good quality of life.ConclusionMMC has only moderate efficacy as a second-line treatment in patients with metastatic PeSCC. With MMC treatment, hematological toxicity is marked.

David Collister, Mark Farrar, Lesha Farrar et al.

Rationale &amp; Objective: We sought to elicit patient preferences regarding the use of plasma exchange in antineutrophil cytoplasmic antibody-associated vasculitis (AAV) and its tradeoffs of risk of kidney failure and risk of serious infection. Study Design: Patient survey. Setting &amp; Participants: The online survey was circulated to adults with AAV via kidney and vasculitis networks in Canada, the United Kingdom, and the United States. Outcomes: Respondents reviewed the estimated 1-year risks of kidney failure and serious infection in AAV with and without plasma exchange across 5 serum creatinine categories (150, 250, 350, 450, and 600 μmol/L). For each scenario, participants indicated whether or not they would choose plasma exchange. Analytical Approach: Responses were assessed with multilevel multivariable logistic regression models to identify predictors of respondent choice regarding treatment with plasma exchange. Results: The 470 respondents from the 13 countries (United States 61.7%, United Kingdom 20.0%, Canada 13.8%, and other countries 4.5%) had a mean age of 58.6 (SD 14.3) years, 70.2% women. Respondents were more likely to choose plasma exchange in scenarios at high risk of kidney failure and serious infection (creatinine level of 350 or 450 μmol/L) compared with lower risk scenarios or the highest risk scenario. However, 145 (30.9%) chose plasma exchange across all scenarios, whereas 80 (17.0%) declined plasma exchange across all scenarios. Respondents from the United Kingdom (OR, 2.61; 95% CI, 1.09-6.22) who received previous dialysis (OR, 2.70; 95% CI, 1.12-6.52) or received previous plasma exchange (OR, 5.62; 95% CI, 2.72-11.61) were more likely to choose plasma exchange, whereas older respondents (OR, 0.98; 95% CI, 0.96-0.99 per 1 year increase) were less likely. Limitations: Unclear generalizability to non–English-speaking, older, and less health literate adults, possible responder bias, survivor bias, lack of individualized risk assessments for kidney failure, and serious infection. Conclusions: Patients with AAV do not express a consistent choice for plasma exchange, which highlights the need for shared decision making.

Wilmer Stalin Sanango Reinoso, Jorge Oswaldo Herrera Ordoñez , Soraya Puertas Azanza et al.

Introducción: El control de la tensión arterial (TA), es un objetivo fundamental, en los pacientes con enfermedad renal crónica estadio 5D, ya que la hipertensión y la hipotensión causan efectos adversos en la calidad de vida del paciente y predisponen al aumento del riesgo cardiovascular. El objetivo del presente estudio fue realizar un análisis económico de la prescripción de antihipertensivos en un grupo de pacientes en terapia sustitutuva de la función renal. Métodos: Se trata de un estudio transversal, realizado en el servicio de hemodiálisis del hospital “José Carrasco Arteaga”. Las variables fueron: tipo de diálisis, sexo, uso de antihipertensivos, tipo de antihipertensivos y costo. La muestra fue no probabilística. Resultados: Se analizan 174 pacientes, 73 (41.95%) en programa de hemodiálisis (HD), 80 (45.98%) en programa de diálisis peritoneal manual (DP) y 21 (12.07%) en diálisis peritoneal automatizada (DPA). Fueron 74% de hombres en HD, 39 casos (48.7%) en DP, 12 casos (57.14%) en DPA. El uso de antihipertensivos en HD fue del 84%, en DP fue del 86% y en DPA fue del 86%. El costo de antihipertensivos fue en  HD 12.5 ± 8.7 USD, en DP 15.7 ± 22.4 y en DPCA  16.4 ± 18.6 USD P>0.05. Conclusión: el uso de antipertensivos en este grupo de estudio fue en mas del 84% en las diferentes modalidades de diálisis, sin diferencia estadítica en el análisis de costo.

Maines LW, Green CL, Keller SN et al.

Lynn W Maines, Cecelia L Green, Staci N Keller, Leo R Fitzpatrick, Charles D Smith Apogee Biotechnology Corporation, Hummelstown, PA, USACorrespondence: Charles D Smith, Apogee Biotechnology Corporation, 1214 Research Blvd, Suite 2015, Hummelstown, PA, 17036, USA, Email cdsmith@apogee-biotech.comIntroduction: Acute kidney injury (AKI) is a common multifactorial adverse effect of surgery, circulatory obstruction, sepsis or drug/toxin exposure that often results in morbidity and mortality. Sphingolipid metabolism is a critical regulator of cell survival and pathologic inflammation processes involved in AKI. Opaganib (also known as ABC294640) is a first-in-class experimental drug targeting sphingolipid metabolism that reduces the production and activity of inflammatory cytokines and, therefore, may be effective to prevent and treat AKI.Methods: Murine models of AKI were used to assess the in vivo efficacy of opaganib including ischemia-reperfusion (IR) injury induced by either transient bilateral occlusion of renal blood flow (a moderate model) or nephrectomy followed immediately by occlusion of the contralateral kidney (a severe model) and lipopolysaccharide (LPS)-induced sepsis. Biochemical and histologic assays were used to quantify the effects of oral opaganib treatment on renal damage in these models.Results: Opaganib suppressed the elevations of creatinine and blood urea nitrogen (BUN), as well as granulocyte infiltration into the kidneys, of mice that experienced moderate IR from transient bilateral ligation. Opaganib also markedly decreased these parameters and completely prevented mortality in the severe renal IR model. Additionally, opaganib blunted the elevations of BUN, creatinine and inflammatory cytokines following exposure to LPS.Conclusion: The data support the hypotheses that sphingolipid metabolism is a key mediator of renal inflammatory damage following IR injury and sepsis, and that this can be suppressed by opaganib. Because opaganib has already undergone clinical testing in other diseases (cancer and Covid-19), the present studies support conducting clinical trials with this drug with surgical or septic patients at risk for AKI.Keywords: opaganib, sphingosine kinase, sphingolipid, acute kidney injury, ischemia-reperfusion injury, lipopolysaccharide, sepsis

A. Spaska, N. Dolynko

The aim of the study was to establish echometric parameters, hemodynamic and cytohistological changes in the prostate gland in men of reproductive age after orchitis. After orchitis, volume and mass of the prostate increased compared to the control group, blood flow was reduced, histologically and electron microscopy changes were observed. According to the literature, prostate diseases in men of reproductive age are an important issue in urology and andrology. The most common among them are infectious lesions of the genitourinary system, which constitute about 45%. These include, orchitis, as a part of the infectious process of the entire reproductive system. Half of the cases of orchitis are sexually transmitted infections or associated with infections that come from urogenital tract. In the majority of patients orchitis leads to infertility. But the state of the prostate, under these conditions, remains poorly understood. We used ultrasound diagnostics and colour ultrasound angiography of the prostate gland of 10 men aged 36–42 years, who suffered from orchitis. The data of 7 healthy men of the same age served as control. For histological and electron microscopy served tissues of prostate gland obtained from the 5 men of the same age group during minor invasive surgery. Statistical processing of the results was carried out using the program Statistica 10. Participants/materials, setting, methods: The length, width, height, volume and mass of the prostate were determined in the grey scale mode. The vascular pattern was determined by colour Doppler mapping (the course of the blood vessels, their diameter, the number in the symmetric sections of prostate). Qualitative hemodynamic indicators: peak systolic blood flow velocity (Vps) cm/s, diastolic blood flow velocity (Vd) cm/s, time average velocity (TAV) cm/s, pulsatility index (PI), volumetric flow rate (V) L/min. Histological methods and TEM. After orchitis, the volume of prostate gland increased to (26.0 ± 1.4) cm3 vs (21.2±1.3) cm3 in control and its mass increased to (27.4±1.2) g vs (22.1±1.6) g in control group. The blood flow in the prostate was reduced: peak arterial blood flow velocity in the peripheral zone decreased up to (6.8±0.46) cm/s vs (18.8±3.0) cm/s in control and diastolic blood flow velocity decreased up to (2.75 ± 0.26) cm/s vs (5.7±0.1) cm/s in the control group. The final sections of the glands were cystically enlarged, the squamous epithelium was flattened, the nuclei were pyknotic and the cell borders were indistinguishable. Epithelial folds and shape were preserved, prostatic bodies and acidophilus secretion in the gaps were preserved. The relative volume of the glandular epithelium decreased up to 56.5% and the volume of the fibrous-muscular-elastic component around the lobules increased up to 43.5%. In the capillaries of the prostate, the nuclei of the endothelial cells were deformed, the cytoplasm was vacuolated, the crysts in the mitochondria were reduced, the basement membrane was expanded and uneven. In the nuclei of the prostatic epithelium the perinuclear condensation of chromatin observed, cytoplasm was vacuolated and accumulated drops of fat, the mitochondrial cristae were homogenized. The results of the investigation approved by the Commission on Biomedical Ethics of the Precarpathian National University as appropriate and those do not violate moral and ethical norms in conducting research (Protocol №3 dated 16.10.2019). Wider implications of the findings: The results of research indicated changes in the prostate, which require further investigation of hormonal balance in men under these conditions. *

Sarah Sweigert, Petar Bajic, Alessa Aragao et al.

Renal cell carcinoma (RCC) with invasion into the renal vein is well described; however, invasion into the gonadal vein is a rare event with less than five cases reported in the literature. RCC occasionally presents with metastasis to the ovaries or the fallopian tubes, although this is also a rare occurrence. We present a case of locally advanced left RCC with direct extension into the ipsilateral gonadal vein with extension into the bilateral ovaries and uterus, which has not been previously described. Computed tomography (CT) in a 72-year-old female with a 35-pound weight loss indicated the presence of a 16-cm left renal mass with caudal tumor extension through the left gonadal vein and regional lymph-adenopathy. There was no evidence of distant metastasis, and she underwent an open left radical nephrectomy. Intraoperatively, she was found to have direct extension of the tumor through the left gonadal vein into the uterus, bilateral ovaries, and the left fallopian tube. All visible dis-ease was resected, and retroperitoneal and pelvic lymphadenectomy were performed. The patient had an uneventful hospital course. Pathology revealed clear cell RCC, Fuhrman grade 3. The final pathologic stage was pT4N1M1. The patient was ultimately noted to have pulmonary metastasis and was treated with immunotherapy with no evidence of disease progression.

Johana Maria Guevara-Morales, Olga Yaneth Echeverri-Peña

Background and aims: Cystinosis is an inborn error of metabolism, clinically characterised by severe renal involvement and development of corneal cystine deposits, especially in the adult form of the disease. Cystinosis is a treatable condition. Therefore, an early diagnosis is necessary to start therapy. For biochemical confirmation of the condition it is necessary to quantify intracellular cystine concentrations. For this, different methods have been described with variations in cell isolation strategies and the amino acid quantification techniques used. In order to improve confirmatory biochemical diagnosis in our setting, a protocol for intraleukocitary cystine quantification was established. Methods: A high performance liquid chromatography based method for cystine quantification in polymorphonuclear cells was implemented. Evaluation of the best anticoagulant to use and temperature stability of the sample at 4 °C were performed. In addition, we established reference values for our population. Results: It was determined that intraleukocitary cystine quantification must be performed in blood samples containing acid-citrate-dextrose (ACD) as anticoagulant. Samples must be processed immediately due to their poor stability even when refrigerated. Based on the results from 50 healthy individuals, the cut-off point established for our population was 0.34 nmol1/2/cystine/mg. Conclusion: The adaptation performed to the cystine quantification method here presented the highest control population that has been reported in the literature so far. Our results highlight the need for making available a cystine quantification method locally and confirm the convenience for each laboratory to establish its own reference values to provide greater reliability for interpreting results. Resumen: Antecedentes y objetivos: La cistinosis es un error innato del metabolismo cuyas características clínicas incluyen compromiso renal severo, formación de cristales de cistina en la córnea, especialmente en la presentación adulta de la enfermedad. Es una enfermedad tratable por lo cual establecer el diagnostico de forma oportuna es fundamental para iniciar terapia. Para la confirmación bioquímica de la enfermedad se requiere determinar las concentraciones intracelulares de cistina, para lo cual se han reportado diferentes métodos tanto para el aislamiento de las células como las técnicas de cuantificación del aminoácido. Con el objetivo de mejorar el diagnóstico bioquímico confirmatorio en nuestro medio establecimos un protocolo de cuantificación intraleucocitaria de cistina. Métodos: Se realizó implementación de un método de cuantificación de cistina en polimorfonucleares por cromatografía líquida de alta resolución, evaluando el mejor anticoagulante a utilizar, la estabilidad de la muestra a 4 °C y estableciendo valores de referencia para nuestra población. Resultados: Se determinó que la muestra para cuantificación intraleucocitaria de cistina debe ser anticoagulada mediante adición de ácido Cítrico-Dextrosa (ACD) como anticoagulante. La muestra debe ser procesada inmediatamente dada su baja estabilidad incluso en refrigeración. Con 50 individuos sanos se estableció como punto de corte para nuestra población 0.34 nmol1/2cistina/mg. Conclusión: La adaptación realizada del método de cuantificación de cistina utiliza el número más alto de muestras control hasta ahora reportado en la literatura. Nuestros resultados dan cuenta de la necesidad de implementar el método a nivel local y reafirman la conveniencia de que cada laboratorio establezca sus propios valores de referencia para proporcionar una mayor confiabilidad a la hora de interpretar los resultados. Keywords: Cystinosis, Aminoacidopathy, Inborn error of metabolism, Intraleukocitary cystine, Fanconi syndrome., Palabras clave: Cistinosis, Aminoacidopatia, Error innato del metabolismo, Cistina intraleucocitaria, Síndrome de fanconi

D. Elterman

C.Ö. YENIYOL, S. SORGUÇ, AR. AYDER et al.

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Hui Wang, Sheng Tai, Li Zhang et al.

A. Aidun, Alireza Safaei Firoozabady, M. Teimoori et al.

Shuma Hirashio, Ayaka Satoh, Takahiro Arima et al.

Abstract Background Complement component 3 (C3) glomerulopathy, which includes dense deposit disease (DDD) and C3 glomerulonephritis, is caused by dysregulation of the alternative complement pathway. In most cases, C3 glomerulopathy manifests pathologically with membranoproliferative glomerulonephritis-like features. An association between C3 glomerulopathy and monoclonal gammopathy was recently reported in several cases, raising the possibility that C3 glomerulopathy is the underlying pathological process in monoclonal gammopathy of renal significance. Case presentation We herein report a case of monoclonal gammopathy-induced DDD that improved histologically and clinically with chemotherapy including bortezomib. Our case is the first in which treatment response can be linked to the histological response. Potential pathological insights are also discussed. Conclusions Rapid and efficient chemotherapy has the potential to limit renal damage in monoclonal gammopathy-associated DDD.

Bo Yang, Qi Wang, Rui Wang et al.

Background/Aims: Cardiovascular complications are the most common cause of death in individuals with autosomal dominant polycystic kidney disease (ADPKD), yet there is no substantial data concerning the clinical characteristics of acute myocardial infarction (AMI) in this population. This study thus aimed to investigate AMI in persons with ADPKD. Methods: A retrospective analysis of ADPKD patients admitted to our hospital over a 13 year period was conducted. Age and gender-matched control patients without ADPKD were also selected at a ratio of 1: 10. Results: A total of 52 ADPKD and 520 non-ADPKD patients were enrolled in the present study, with those in the former group exhibiting significantly poorer kidney function. The distribution of AMI types differed significantly between these two groups. The incidence of ST-segment elevation myocardial infarction (STEMI) was higher (75.0%) and the incidence of non-ST segment elevation myocardial infarction (NSTEMI) was lower (25.0%) in the ADPKD group. At the onset of AMI, sudden cardiac death (SCD) was more common in ADPKD patients (11.5% vs. 4.6%). In terms of risk factors, the occurrence of hypertension was greater in ADPKD patients (78.8% vs. 39.6%). With regard to subsequent management, ADPKD patients had a higher prevalence of triple-branch coronary lesions (21.1% vs. 11.2%), undergoing more coronary artery bypass grafting (CABG) (7.7% vs. 5.4%) and fewer percutaneous coronary interventions (PCI) (73.1% vs. 84.6%). Overall, ADPKD patients had higher rates of mortality (13.5% vs. 6.2%). Conclusion: ADPKD patients with AMI suffer from more severe conditions and difficult therapies, resulting in a poorer prognosis.