{"title":"A Report of Claudin-19 Mutation Causing Nephrocalcinosis and End-Stage Kidney Disease from Iran.","authors":"Shokoufeh Savaj, Saghar Chehrazi","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder that affect children and young adults. Mutation in gene that coding the tight junction proteins Claudin-16 and Claudin-19(CLDN19) is responsible of this rare disorder. Hypomagnesemia, hypercalciuria, kidney failure and visual impairment (in CLDN 19 gene mutation) are the most common presentations of FHHNC. Here we present a 31-year-old woman with end-stage kidney disease (ESKD) on routine hemodialysis for the past eight years and was referred to Firoozgar nephrology clinic for kidney transplantation. Her past medical history included recurrent kidney stones. Although FHHNC is a rare disease, genetic evaluation recommended in patients with ESKD and concomitant nephrocalcinosis.</p>","PeriodicalId":14610,"journal":{"name":"Iranian journal of kidney diseases","volume":"18 4","pages":"125"},"PeriodicalIF":0.8000,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iranian journal of kidney diseases","FirstCategoryId":"3","ListUrlMain":"","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder that affect children and young adults. Mutation in gene that coding the tight junction proteins Claudin-16 and Claudin-19(CLDN19) is responsible of this rare disorder. Hypomagnesemia, hypercalciuria, kidney failure and visual impairment (in CLDN 19 gene mutation) are the most common presentations of FHHNC. Here we present a 31-year-old woman with end-stage kidney disease (ESKD) on routine hemodialysis for the past eight years and was referred to Firoozgar nephrology clinic for kidney transplantation. Her past medical history included recurrent kidney stones. Although FHHNC is a rare disease, genetic evaluation recommended in patients with ESKD and concomitant nephrocalcinosis.
期刊介绍：
The Iranian Journal of Kidney Diseases (IJKD), a peer-reviewed journal in English, is the official publication of the Iranian Society of Nephrology. The aim of the IJKD is the worldwide reflection of the knowledge produced by the scientists and clinicians in nephrology. Published quarterly, the IJKD provides a new platform for advancement of the field. The journal’s objective is to serve as a focal point for debates and exchange of knowledge and experience among researchers in a global context. Original papers, case reports, and invited reviews on all aspects of the kidney diseases, hypertension, dialysis, and transplantation will be covered by the IJKD. Research on the basic science, clinical practice, and socio-economics of renal health are all welcomed by the editors of the journal.
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