Renal-Hepatic-Pancreatic Dysplasia 2
This condition is caused by changes in NEK8, which makes a protein found in primary cilia. Severe forms result from changes in both copies of the gene (autosomal recessive), while certain changes in one copy cause cystic kidney disease in an autosomal dominant way.
Příznaky a projevy
In the severe recessive form, enlarged cystic and poorly formed kidneys and liver involvement are seen, and many affected pregnancies or newborns do not survive. Situs inversus and heart problems can also occur. Milder forms cause nephronophthisis or cystic kidney disease, mostly presenting in the newborn period.
Co se diagnózou změní
Management depends on severity and includes kidney function monitoring, treatment of kidney failure with dialysis or transplantation, and liver assessment. Genetic counselling is recommended because both recessive and dominant inheritance occur; testing parents clarifies recurrence risk, and prenatal testing can be discussed.
Analyzované geny
Známé také jako
NEK8 renal-hepatic-pancreatic dysplasia; renal-hepatic-pancreatic dysplasia caused by mutation in NEK8; renal-hepatic-pancreatic dysplasia type 2; RHPD2
