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"familial juvenile hyperuricemic nephropathy"

D Saxena, P Srivastava, S R Phadke
Familial juvenile hyperuricemic nephropathy (FJHN), characterized by early-onset hyperuricemia, reduced fractional excretion of uric acid, and chronic renal failure is caused due to mutation in uromodulin (UMOD) gene. We identified a novel mutation in a family with multiple members affected with FJHN. Ten coding exons of UMOD gene in three family members with clinical and biochemical features of FJHN and one unaffected family member were sequenced, and sequence variants were analyzed for the pathogenicity by bioinformatics studies...
September 2016: Indian Journal of Nephrology
Kamila A Kaminska-Pajak, Katarzyna Dyga, Piotr Adamczyk, Maria Szczepańska, Marcin Zaniew, Bodo Beck, Marcin Tkaczyk
Hyperuricemia is a common symptom in adult population. It usually accompanies the chronic kidney disease. Less frequently, it is a primary phenomenon causing later serious clinical consequences. Familial juvenile hyperuricemic nephropathy (FJHN) is one of the hereditary conditions associated with high levels of serum uric acid and leading to dialysis in young adult age. It results from mutation in the UMOD gene, encoding the uromodulin protein, that is, Tamm-Horsfall protein. The aim of this paper was to present two families (7 affected members) with FJHN, in whom standard nephrological diagnostics did not provide clear cause of dialysis-dependent chronic kidney disease, until genetic testing was performed...
November 2016: Renal Failure
Tahereh Malakoutian, Atefeh Amouzegar, Farzaneh Vali, Mojgan Asgari, Babak Behnam
Uromodulin ( UMOD ) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end-stage renal disease. This is the first case report of a family with UAKD caused by a novel de novo mutation (E197X) in the UMOD gene. This case is a 28-year-old man with severely reduced kidney function [1]. No similar case was reported in his family history. This report highlights and reminds the importance of genetic screening in young patients involving kidney dysfunction, as the UAKD and some other kidney genetic diseases may be late-onset...
June 2016: Journal of Molecular and Genetic Medicine: An International Journal of Biomedical Research
Tamehito Onoe, Kazunori Yamada, Ichiro Mizushima, Kiyoaki Ito, Takahiro Kawakami, Shoichiro Daimon, Hiroaki Muramoto, Tadashi Konoshita, Masakazu Yamagishi, Mitsuhiro Kawano
BACKGROUND: Uromodulin kidney disease (UKD) is an inherited kidney disease caused by a uromodulin (UMOD) gene mutation. The UMOD gene encodes the Tamm-Horsfall protein (THP), which is the most abundant protein in healthy human urine. Because of its rarity, the incidence of UKD has not been fully elucidated. The purpose of the present study is to clarify the frequency of UKD among patients who underwent renal biopsy. METHODS: Immunostaining for THP was performed for patients <50 years of age with renal insufficiency and hyperuricemia without overt urinalysis abnormality from renal biopsy databases...
February 2016: Clinical Kidney Journal
Rajat Bhargava, Renu Saigal, Rajeev Sharma, Laxmikant Goyal, Abhishek Agrawal
Familial juvenile hyperuricemic nephropathy 1 (FJHN1) is an autosomal dominant disorder characterized by decreased urinary excretion of urate and hyperuricemia, followed by the development of chronic interstitial nephritis most often leading to progressive renal failure and death in middle age. We report a case of FJHN1 presenting as chronic tophaceous gout, hypertension, renal failure and a family history suggestive of autosomal dominant inheritance, for its rarity.
August 2014: Journal of the Association of Physicians of India
Kai-Uwe Eckardt, Seth L Alper, Corinne Antignac, Anthony J Bleyer, Dominique Chauveau, Karin Dahan, Constantinos Deltas, Andrew Hosking, Stanislav Kmoch, Luca Rampoldi, Michael Wiesener, Matthias T Wolf, Olivier Devuyst
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion...
October 2015: Kidney International
Heather Spain, Troy Plumb, Ted R Mikuls
We report 2 cases of familial juvenile hyperuricemic nephropathy, a rare autosomal dominant disorder characterized by uromodulin gene mutations leading to hyperuricemia secondary to profound renal uric acid underexcretion, gout, and chronic renal disease. Case 1 involves a 56-year-old woman who underwent a kidney transplant after steady decline in kidney function since the age of 19 years. Her gout had been successfully controlled with varying doses of daily allopurinol. Case 2, the son of case 1, presented with already progressive and debilitating arthritis at the age of 34 years with relatively stable chronic renal failure that was also subsequently managed with daily allopurinol and judicious anti-inflammatory prophylaxis...
December 2014: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
Sulistiyati Bayu Utami, Endang Mahati, Peili Li, Nani Maharani, Nobuhito Ikeda, Udin Bahrudin, Chishio Munemura, Makoto Hosoyamada, Yasutaka Yamamoto, Akio Yoshida, Yuji Nakayama, Katsumi Higaki, Eiji Nanba, Haruaki Ninomiya, Yasuaki Shirayoshi, Kimiyoshi Ichida, Kazuhiro Yamamoto, Tatsuo Hosoya, Ichiro Hisatome
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder caused by mutations in UMOD that encodes uromodulin. Topiroxostat, a novel non-purine analog, selectively inhibits xanthine oxidase and reduces the serum uric acid levels and the urinary albuminuria. METHODS: Genomic DNA of a patient was extracted from peripheral white blood. Exons and flanking sequences of UMOD were amplified by PCR with primers. Mutation analysis was performed by direct sequencing of the PCR products...
August 2015: Clinical and Experimental Nephrology
Dganit Dinour, Liat Ganon, Levin-Iaina Nomy, Rotem Ron, Eliezer J Holtzman
BACKGROUND: Uromodulin (Tamm-Horsfall protein) is the most abundant urinary protein in healthy individuals. Despite 60 years of research, its physiological role remains rather elusive. Familial juvenile hyperuricemic nephropathy and medullary cystic kidney disease Type 2 are autosomal dominant tubulointerstitial nephropathies characterized by gouty arthritis and progressive renal insufficiency, caused by uromodulin (UMOD) mutations. The aim of this study was to compare the cellular effects of mutant and wild-type UMOD...
June 2014: Journal of Nephrology
Demet Alaygut, Meral Torun-Bayram, Alper Soylu, Belde Kasap, Mehmet Türkmen, Salih Kavukçu
Chronic kidney disease (CKD) is a life-long condition associated with substantial morbidity and premature death due to complications from a progressive decrease in kidney function. Especially in children, early diagnosis and detection of the etiologic factors are important to improve their health outcomes. Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disorder characterized by hyperuricemia with renal uric acid under-excretion and CKD. Genetic studies have revealed mutations in the uromodulin (UMOD) gene...
November 2013: Turkish Journal of Pediatrics
Maojing Liu, Yuqing Chen, Yu Liang, Ying Liu, Suxia Wang, Ping Hou, Hong Zhang, Minghui Zhao
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by hyperuricemia and progressive chronic kidney disease. Uromodulin gene (UMOD) mutations, leading to abnormalities of uromodulin intracellular trafficking contribute to the progress of the disease. METHODS: We did UMOD screening in three Chinese FJHN families. We thus constructed mutant uromodulin express plasmids by site-mutagenesis from wild type uromodulin vector and transfected them into HEK293 (human embryonic kidney) cells...
December 1, 2013: Gene
Franca M Iorember, V Matti Vehaskari
The most abundant urinary protein, Tamm-Horsfall protein, later renamed uromodulin, is expressed exclusively by the thick ascending limb cells of the kidney and released into urine from the apical cell membrane. Uromodulin is believed to protect against urinary tract infections and stones, but its other physiologic functions have remained obscure until recently. Renewed interest in uromodulin has been brought about by the identification of uromodulin mutations as causes of a discrete group of diseases that are distinct from nephronophthisis...
July 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Mi-Na Lee, Ji-Eun Jun, Ghee Young Kwon, Woo-Seong Huh, Chang-Seok Ki
Familial juvenile hyperuricemic nephropathy (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive renal failure. Gradual progressive interstitial renal disease, with basement membrane thickening and glomerulosclerosis resulting from fibrosis, starts in early life. In most cases of FJHN, uromodulin gene (UMOD) is responsible for the disease; however, there has been only one report of a genetically confirmed FJHN family in Korea...
July 2013: Annals of Laboratory Medicine
Jia Han, Ying Liu, Fangwen Rao, Caroline M Nievergelt, Daniel T O'Connor, Xingyu Wang, Lisheng Liu, Dingfang Bu, Yu Liang, Fang Wang, Luxia Zhang, Hong Zhang, Yuqing Chen, Haiyan Wang
Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia with decreased renal excretion of UMOD and uric acid, suggesting a role for UMOD in the regulation of plasma uric acid. To determine this, we screened common variants across the UMOD locus in one community-based Chinese population of 1000 individuals and the other population from 642 American twins and siblings of European and Hispanic ancestry. Transcriptional activity of promoter variants was estimated in luciferase reporter plasmids transfected into HEK-293 cells and mIMCD3 cells...
April 2013: Kidney International
Mayuka Nakayama, Yasukiyo Mori, Noriyoshi Ota, Mami Ishida, Yayoi Shiotsu, Eiko Matsuoka, Hiroshi Kado, Ryo Ishida, Mayumi Nakata, Takashi Kitani, Keiichi Tamagaki, Chieko Sekita, Atsuo Taniguchi
We report the case of a Japanese family suffering from familial juvenile hyperuricemic nephropathy (FJHN) due to a rare missense mutation of the uromodulin (UMOD) gene. An 18-year-old male presented with gout, hyperuricemia, and stage 3 chronic kidney disease. Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein. However, in the present case, a T688C mutation was identified in exon 4, resulting in amino acid substitution with arginine replacing tryptophan at position 230 (Trp230Arg)...
January 2012: Case Reports in Nephrology and Urology
Xin Wei, Ricong Xu, Zhenhua Yang, Zhijian Li, Yunhua Liao, Richard J Johnson, Xueqing Yu, Wei Chen
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by early onset of hyperuricemia, decreased fractional renal urate excretion and progressive interstitial nephropathy. Mutations in the uromodulin (UMOD) gene encoding uromodulin/Tamm-Horsfall, a glycosylphosphatidylinositol (GPI)-anchored protein, cause this disease. METHODS: One Chinese family with 13 FJHN-affected individuals is described. Clinical data, blood and urine samples of 7 affected members (all alive patients in this family) and 15 unaffected members were collected...
2012: American Journal of Nephrology
Aurélie Hummel
Familial juvenile hyperuricemic nephropathy is a rare autosomal dominant disease. It is characterized by abnormal handling of urate responsible for hyperuricaemia often complicated of gouty arthritis. Renal failure is due to tubulointerstitial nephritis. Ultrasonography sometimes finds renal cysts of variable size and number. Renal histology, although not specific, shows interstitial fibrosis, atrophic tubules, sometimes enlarged and with irregular membrane thickening. Renal failure progresses to end stage between 30 and 60 years of age...
April 2012: Néphrologie & Thérapeutique
Terence Gibson
PURPOSE OF REVIEW: (a) To examine the latest information about renal tubular handling of uric acid, its genetic background and contribution to the causation of hyperuricemia. (b) To review the association of hyperuricemia, gout and chronic kidney damage and whether hyperuricemia is cause or effect of renal dysfunction. RECENT FINDINGS: The gene SLC2A9 encodes for GLUT9, an important proximal tubule transporter of uric acid. Polymorphisms of the gene have been linked to gout susceptibility and to hereditary hypouricemia...
March 2012: Current Opinion in Rheumatology
Marta M C Medeiros, Geraldo B Silva, Elizabeth F Daher
A 20-year-old female was admitted with tophus gout and chronic kidney disease (CKD), progressing to dialysis need and death. The familial investigation evidenced several cases of hyperuricemia, gout and CKD, as well as several cases of early death due to CKD. After analyzing these cases, it was concluded that the diagnosis was familial juvenile hyperuricemic nephropathy. This is an autosomal dominant disorder caused by mutations in the uromodulin gene, characterized by early beginning hyperuricemia and gout, in men and women, associated with progressive CKD...
November 2012: Rheumatology International
Guillaume Bollée, Karin Dahan, Martin Flamant, Vincent Morinière, Audrey Pawtowski, Laurence Heidet, Didier Lacombe, Olivier Devuyst, Yves Pirson, Corinne Antignac, Bertrand Knebelmann
BACKGROUND: UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We reviewed cases of UMOD mutations diagnosed in the genetic laboratories of Necker Hospital (Paris, France) and of Université Catholique de Louvain (Brussels, Belgium). We also analyzed patients with MCKD/FJHN but no UMOD mutation. To determine thresholds for hyperuricemia and uric-acid excretion fraction (UAEF) according to GFR, these parameters were analyzed in 1097 patients with various renal diseases and renal function levels...
October 2011: Clinical Journal of the American Society of Nephrology: CJASN
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