Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Malformations of the urinary tract

A broad set of inborn morphological abnormalities of the urogenital organs are clustered in families with hereditary diseases.

Diseases

MODY5 diabetes
Malformations in MODY 5 are predominantly cystic. Because apparent soon after birth, they precede diabetes.
Renal cysts and diabetes (RCAD)
Malformations in RCAD are predominantly cystic. Because apparent soon after birth, they precede diabetes.
Renal hypodysplasia/aplasia
Malformations in renal aplasia are severe and life threatening.
Renal hypodysplasia/aplasia 1
Malformations in renal aplasia type 1 are life threatening.
Renal hypodysplasia/aplasia 2
Malformations in renal aplasia type 2 are life threatening.
Renal tubular dysgenesis
Renal malformations include absence of proximal tubules and renal artery hyperplasia. Early signs can be found by fetal ultrasound along with oligohydramnios.