Аутосомно-домінантна тубулоінтерстиціальна хвороба нирок: Генна класифікація
Causal gene | Previous terminology | Characteristics |
|---|---|---|
Uromodulin (UMOD) | Uromodulin kidney disease (UKD) Uromodulin-associated kidney disease (UAKD) Familial juvenile hyperuricemic nephropathy (FJHN) Medullary cystic kidney disease type 2 (MCKD2) | Rarely presents in childhood Early gout with hyperuricemia |
Mucin-1 (MUC1) | Mucin-1 kidney disease (MKD) Medullary cystic kidney disease type 1 (MCKD1) | No childhood presentation |
Renin (REN) | Familial juvenile hyperuricemic nephropathy type 2 (FJHN2) | Frequent childhood presentation Mild hypotension Risk for acute kidney injury Risk for anemia, hyperuricemia, and hyperkalemia |
Hepatocyte nuclear factor-1 beta (HNF1B) | Maturity-onset diabetes mellitus of the Young type 5 (MODY5) Renal cyst and diabetes syndrome (RCAD) | Frequent childhood presentation Prenatal ultrasound findings Genital abnormalities Pancreatic atrophy |