" /> Autosomal dominant tubulointerstitial disease, Type 1 - CISMeF





Preferred Label : Autosomal dominant tubulointerstitial disease, Type 1;

ICD-11 definition : A disease of the kidney caused by inheritance of an autosomal dominant trait. The genetic abnormality is in the coding for mucin 1 (MUC-1) on chromosome 1. Clinically there is familial progressive renal functional impairment ultimately leading to renal failure usually between 20 and 50 years. Hyperuricemia and gout are not a feature. There is atrophy of the kidneys and thinning of the cortex. Histology is of chronic tubulointerstitial nephritis with fibrosis. Cystic changes are uncommon and if present are in the cortex not the medulla. Immunostaining can demonstrate intracellular accumulation of MUC-1 frameship protein in distal tubular cells;

ICD-11 synonym : Mucin-1 Kidney disease; ADTKD-MUC1 [autosomal dominant tubulointerstitial kidney disease MUC1]; autosomal recessive medullary cystic disease; medullary cystic kidney disease, Type 1; MCKD type 1; MCKD - [medullary cystic kidney disease] type 1; nephronopthisis;

ICD-11 inclusion : sponge kidney; sponge kidney NOS;

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A disease of the kidney caused by inheritance of an autosomal dominant trait. The genetic abnormality is in the coding for mucin 1 (MUC-1) on chromosome 1. Clinically there is familial progressive renal functional impairment ultimately leading to renal failure usually between 20 and 50 years. Hyperuricemia and gout are not a feature. There is atrophy of the kidneys and thinning of the cortex. Histology is of chronic tubulointerstitial nephritis with fibrosis. Cystic changes are uncommon and if present are in the cortex not the medulla. Immunostaining can demonstrate intracellular accumulation of MUC-1 frameship protein in distal tubular cells

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09/05/2025


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