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Martin Bezdíčka, Jan Langer, Jaromír Háček, Jakub Zieg
Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present intermittently and urine protein electrophoresis showed low molecular weight protein fraction of 50%...
2020: Frontiers in Pediatrics
#2
JOURNAL ARTICLE
Martina Živná, Kendrah Kidd, Mohamad Zaidan, Petr Vyleťal, Veronika Barešová, Kateřina Hodaňová, Jana Sovová, Hana Hartmannová, Miroslav Votruba, Helena Trešlová, Ivana Jedličková, Jakub Sikora, Helena Hůlková, Victoria Robins, Aleš Hnízda, Jan Živný, Gregory Papagregoriou, Laurent Mesnard, Bodo B Beck, Andrea Wenzel, Kálmán Tory, Karsten Häeffner, Matthias T F Wolf, Michael E Bleyer, John A Sayer, Albert C M Ong, Lídia Balogh, Anna Jakubowska, Agnieszka Łaszkiewicz, Rhian Clissold, Charles Shaw-Smith, Raj Munshi, Robert M Haws, Claudia Izzi, Irene Capelli, Marisa Santostefano, Claudio Graziano, Francesco Scolari, Amy Sussman, Howard Trachtman, Stephane Decramer, Marie Matignon, Philippe Grimbert, Lawrence R Shoemaker, Christoforos Stavrou, Mayssa Abdelwahed, Neila Belghith, Matthew Sinclair, Kathleen Claes, Tal Kopel, Sharon Moe, Constantinos Deltas, Bertrand Knebelmann, Luca Rampoldi, Stanislav Kmoch, Anthony J Bleyer
There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort characterizing 111 individuals from 30 families with both clinical and laboratory findings. Sixty-nine individuals had a REN mutation in the signal peptide region (signal group), 27 in the prosegment (prosegment group), and 15 in the mature renin peptide (mature group). Signal group patients were most severely affected, presenting at a mean age of 19...
December 2020: Kidney International
#3
REVIEW
Priyanka Khandelwal, Jasintha Sabanadesan, Aditi Sinha, Pankaj Hari, Arvind Bagga
Identification of a monogenic etiology is possible in a proportion of patients with childhood-onset nephrolithiasis or nephrocalcinosis. Bartter syndrome (BS), a hereditary tubulopathy characterized by polyuria, hypokalemic alkalosis and growth retardation that rarely presents with isolated nephrocalcinosis. Patients with defect in renal outer medullary potassium channel, encoded by the KCNJ1 gene causing BS type 2, typically present during the neonatal period. We describe a 14-year-old girl with mild late-onset BS type 2 with reported pathogenic compound heterozygous variations in exon 2 of KCNJ1 (c...
August 2020: CEN Case Reports
#4
REVIEW
Fay J Dickson, John A Sayer
The abnormal deposition of calcium within renal parenchyma, termed nephrocalcinosis, frequently occurs as a result of impaired renal calcium handling. It is closely associated with renal stone formation (nephrolithiasis) as elevated urinary calcium levels (hypercalciuria) are a key common pathological feature underlying these clinical presentations. Although monogenic causes of nephrocalcinosis and nephrolithiasis are rare, they account for a significant disease burden with many patients developing chronic or end-stage renal disease...
January 6, 2020: International Journal of Molecular Sciences
#5
REVIEW
Martine T P Besouw, Robert Kleta, Detlef Bockenhauer
Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on clinical symptoms and/or the underlying genetic cause. Yet, the clinical phenotype can show remarkable variability, leading to potential divergences between classifications...
October 2020: Pediatric Nephrology
#6
REVIEW
Laura A Devlin, John A Sayer
Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes. This in turn provides new opportunities to explore disease mechanisms and therapeutic approaches to target cystic kidney disease and other associated phenotypes. Here we review recent advances in the field of renal ciliopathies and how these allow new insights into this fascinating spectrum of diseases...
June 2019: Current Opinion in Genetics & Development
#7
JOURNAL ARTICLE
Yael Ben-David, Rephael Halevy, Waheeb Sakran, Yoav Zehavi, Ronen Spiegel
Persistent hypokalemic hypochloremic metabolic alkalosis represents a heterogeneous group of genetic disorders of which the most common is Bartter syndrome (BS). BS is an inherited renal tubulopathy caused by defective salt reabsorption in the thick ascending loop of Henle, which results in persistent hypokalemic hypochloremic metabolic alkalosis. Here we report a 10-year-old girl of a consanguineous family. She presented prenatally with severe polyhydramnios and distended bowel loops. Thereafter, she displayed failure to thrive and had recurrent admissions due to dehydration episodes associated with diarrhea, and characterized by hypokalemia, hypochloremia and metabolic alkalosis...
October 2019: European Journal of Medical Genetics
#8
JOURNAL ARTICLE
Jingyi Li, Shoulong Hu, Yi Nie, Rongfeng Wang, Ming Tan, Hongmei Li, Shuanli Zhu
RATIONALE: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and metabolic alkalosis. We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding the ATP-sensitive inward rectifier potassium channel in the thick ascending limb of the loop of Henle. PATIENT CONCERNS: A patient was admitted to our hospital because of weakness, polyuria, and polydipsia. At presentation to our hospital, the female Chinese patient was 34 years old and her physical examination was normal...
August 2019: Medicine (Baltimore)
#9
JOURNAL ARTICLE
Morten K Herlin, Vang Q Le, Allan T Højland, Anja Ernst, Henrik Okkels, Astrid C Petersen, Michael B Petersen, Inge S Pedersen
The aetiology of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, characterized by uterovaginal agenesis in 46,XX women, remains poorly understood. Since familial occurrences are rare, genetic findings reported so far only apply to a minority of mainly sporadic cases and most studies have not included other family members enabling segregation analysis. Herein, we report on the investigation of a unique three-generation family of two female cousins with MRKH syndrome and unilateral renal agenesis (RA) and two deceased male relatives with RA...
September 29, 2019: Human Reproduction
#10
Giovanni Gambaro, Alessandro Naticchia, Pietro Manuel Ferraro, Gionata Spagnoletti, Jacopo Romagnoli, Maria Paola Salerno, Franco Citterio
INTRODUCTION: Dent's disease is a rare X-linked recessive disorder that manifests in childhood or early adulthood and can lead to end-stage renal disease (ESRD). It occurs in males, who are hemizygous. In patients who develop ESRD, a deceased donor kidney transplant cures the disease. Females are obligate carriers of the mutated gene, and some show a mild Dent's disease phenotype. There may be reason for concern when considering a female obligate carrier (i.e., the mother) for kidney donation because of the risk of kidney function deterioration...
2019: Kidney & Blood Pressure Research
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JOURNAL ARTICLE
Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li, Li Wang
BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. The sites of NPHS1 mutations in FSGS is not clarified very well. In this study, we investigated the specific mutations of NPHS1 gene in Chinese patients with sporadic FSGS. METHODS: A total of 309 patients with sporadic FSGS were collected and screened for NPHS1 mutations by second-generation sequencing...
June 19, 2019: BMC Medical Genetics
#12
JOURNAL ARTICLE
Functional Characterization of the Disease-Associated N-Terminal Complement Factor H Mutation W198R.
Marcell Cserhalmi, Barbara Uzonyi, Nicolas S Merle, Dorottya Csuka, Edgar Meusburger, Karl Lhotta, Zoltán Prohászka, Mihály Józsi
Dysregulation of the complement alternative pathway is involved in the pathogenesis of several diseases, including the kidney diseases atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). In a patient, initially diagnosed with chronic glomerulonephritis, possibly C3G, and who 6 years later had an episode of aHUS, a heterozygous missense mutation leading to a tryptophan to arginine exchange (W198R) in the factor H (FH) complement control protein (CCP) 3 domain has previously been identified...
2017: Frontiers in Immunology
#13
JOURNAL ARTICLE
Rhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, Kim Brugger, Stephen Abbs, Coralie Bingham, Charles Shaw-Smith
BACKGROUND: Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutation discovered in an individual after forty years of renal disease. CASE PRESENTATION: A 57 year old Caucasian woman with chronic kidney disease stage five was reviewed in a regional joint renal genetics clinic...
July 12, 2017: BMC Nephrology
#14
JOURNAL ARTICLE
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes ( NPHP1 to -20 ) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www...
December 7, 2017: Clinical Journal of the American Society of Nephrology: CJASN
#15
JOURNAL ARTICLE
Hee Gyung Kang, Hyun Kyung Lee, Yo Han Ahn, Je-Gun Joung, Jaeyong Nam, Nayoung K D Kim, Jung Min Ko, Min Hyun Cho, Jae Il Shin, Joon Kim, Hye Won Park, Young Seo Park, Il-Soo Ha, Woo Yeong Chung, Dae-Yeol Lee, Su Young Kim, Woong Yang Park, Hae Il Cheong
Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients...
August 5, 2016: Experimental & Molecular Medicine
#16
JOURNAL ARTICLE
Manuel Heras Benito, Miguel A Garcia-Gonzalez, María Valdenebro Recio, Álvaro Molina Ordás, Ramiro Callejas Martínez, María Astrid Rodríguez Gómez, Leonardo Calle García, Lisbeth Sousa Silva, María José Fernández-Reyes Luis
We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
#17
JOURNAL ARTICLE
Laura I Escobar, Christopher Simian, Cyrielle Treard, Donia Hayek, Carolina Salvador, Norma Guerra, Mario Matos, Mara Medeiros, Sandra Enciso, María Dolores Camargo, Rosa Vargas-Poussou
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia. METHODS: Nine unrelated families were studied: seven children, a teenager, and an adult with dRTA...
May 2016: Molecular Genetics & Genomic Medicine
#18
JOURNAL ARTICLE
Kok Siong Poon, Andrew Anjian Sng, Cindy Weili Ho, Evelyn Siew-Chuan Koay, Kah Yin Loke
Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets...
July 2015: Journal of Investigative Medicine High Impact Case Reports
#19
JOURNAL ARTICLE
Lisa Maria Hillen, Erik Jan Kamsteeg, Jeroen Schoots, Anton Tom Tiebosch, Ernst Jan Speel, Guido M Roemen, Carine J Peutz-Koostra, Constance T R M Stumpel
Congenital nephrotic syndrome (CNS) caused by a mutation in the Wilms tumor 1 suppressor gene (WT1) is part of Denys Drash Syndrome or Frasier syndrome. In the framework of genetic counseling, the diagnosis of CNS can be refined with gene mutation studies on long-term stored formalin-fixed paraffin-embedded tissue from postmortem examination. We report a case of diffuse mesangial sclerosis with perinatal death caused by a de novo mutation in the WT1 gene in a girl with an XY-genotype. This is the first case of Denys Drash Syndrome with the uncommon missense c...
2016: Fetal and Pediatric Pathology
#20
JOURNAL ARTICLE
Daniela A Braun, Carolin E Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne A Astrinidis, Werner L Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A Lawson, Shirlee Shril, Merlin Airik, Weizhen Tan, David Schapiro, Jia Rao, Won-Il Choi, Tobias Hermle, Markus J Kemper, Martin Pohl, Fatih Ozaltin, Martin Konrad, Radovan Bogdanovic, Rainer Büscher, Udo Helmchen, Erkin Serdaroglu, Richard P Lifton, Wolfram Antonin, Friedhelm Hildebrandt
Nucleoporins are essential components of the nuclear pore complex (NPC). Only a few diseases have been attributed to NPC dysfunction. Steroid-resistant nephrotic syndrome (SRNS), a frequent cause of chronic kidney disease, is caused by dysfunction of glomerular podocytes. Here we identify in eight families with SRNS mutations in NUP93, its interaction partner NUP205 or XPO5 (encoding exportin 5) as hitherto unrecognized monogenic causes of SRNS. NUP93 mutations caused disrupted NPC assembly. NUP93 knockdown reduced the presence of NUP205 in the NPC, and, reciprocally, a NUP205 alteration abrogated NUP93 interaction...
April 2016: Nature Genetics
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