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While most CKD cases originate from lifestyle-related factors or diseases such as diabetes and hypertension, the underlying causes of CKD remain unknown for about one in every ten people with end-stage renal failure. ....
Genetic analysis reveals true origin of chronic kidney disease in undiagnosed patients medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.
Study offers clues to clinical diagnosis of nephronophthisis in adults Nephronophthisis (NPH) is a kidney disease affecting mainly children. Now, for the first time, researchers at Tokyo Medical and Dental University (TMDU) have studied a number of adults with NPH and highlighted clinical, genetic and pathological characteristics that could help in confirming this challenging diagnosis. NPH is inherited in an autosomal recessive pattern and, though rare, is the commonest genetic cause of kidney failure in children. The name is derived from nephron , the functional filtration units of the kidney and phthisis , Greek for wasting away . Recent genetic studies have highlighted that NPH may also present in adults resulting in end-stage renal disease (ESRD). However, there are only a few case-reports and no cohort studies, possibly because of rarity and diagnostic difficulties. ....
E-Mail IMAGE: Genetic background and clinical features of adult patients suspected with nephronophthisis on renal biopsy view more Credit: Department of Nephrology,TMDU Researchers at Tokyo Medical and Dental University (TMDU) in a pioneering study identify clinical, genetic and histopathological characteristics that may help confirm the diagnosis when nephronophthisis occurs in adults Tokyo, Japan - Nephronophthisis (NPH) is a kidney disease affecting mainly children. Now, for the first time, researchers at Tokyo Medical and Dental University (TMDU) have studied a number of adults with NPH and highlighted clinical, genetic and pathological characteristics that could help in confirming this challenging diagnosis. ....