HNF1B-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-HNF1B | HNF1B-MODY | HNF1B-related nephropathy | MODY5 | Maturity-onset diabetes of the young type 5 | RCAD syndrome | Renal cysts and diabetes syndrome | Renal dysfunction-early-onset diabetes syndrome
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B which is characterized by chronic tubulo-interstitial nephritis that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia early onset diabetes and extrarenal manifestations.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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HNF1B-related autosomal dominant tubulointerstitial kidney disease?
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