HNF1B-related autosomal dominant tubulointerstitial kidney disease

Orpha code: 93111OMIM code: 137920

Definition

A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of <i>HNF1B</i>, 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.

Disease data
Classification

Clinical subtype

Synonyms
ADTKD-HNF1B
Dysfunkcja nerek - cukrzyca o wczesnym poczatku
MODY5
Torbiele nerek - MODY
Zespół RCAD
Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z 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
ORPHA code
93111
OMIM code
137920
ICD10 code
N11.8
ICD11 code
-

No additional description.

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