Case of Autosomal dominant tubulointerstitial kidney disease (ADTKD) with sever AKI in Activities beyond the usual: an unusual presentation of the disease

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is established by multiple gene mutations. These disorders are known by different names, such as Medullary Cystic Kidney Disease (MCKD) type ۲, Familial Juvenile Hyperuricemic Nephropathy (FJHN), Uromodulin-Associated Kidney Disease (UAKD), and MCKD (mucin-۱ mutation) type ۱. A clear understanding of these rare disorders could explain the pattern of tubulointerstitial fibrosis in many forms of chronic kidney disease (CKD). We describe an ADTKD patient who developed AKI after sever activity which was unusual in this genetic disorder. Usually ADTKD causes progressive loss on kidney function, but our patient presented with AKI and after adequate therapy his renal function back to normal. Although ADTKD patients have a family history of kidney disease, we described the patient's family history. Patient's brother had the same history of renal disease after physical activities so we suspect this patient and his brother must have a genetic disorder so we checked GWAS then according to test result the MUC۱ mutation was found as ADTKD.

کلیدواژه ها:

autosomal dominant tubulointerstitial kidney disease (ADTKD) ، acute renal failure (AKI) ، MUC۱ mutations