Renal dysplasia diffuse autsmal recessive
Overview
Renal dysplasia diffuse autsmal recessive is the mst cmmn heritable cystic renal disease ccurring in infancy and childhd. It is distinct frm autsmal dminant plycystic kidney disease (ADPKD), which tends tccur in an lder ppulatin. The clinical spectrum shws a wide variability, ranging frm perinatal death ta milder prgressive frm, which may nt be diagnsed until adlescence.
Symptoms
Patients whdevelp severe kidney disease early in life tend tsuccumb trenal failure befre significant hepatic disease can develp. n the ther hand, patients with a milder frm f kidney disease tend tdevelp severe hepatic cmplicatins later in life. The main characteristic f kidney invlvement is dilatatin f the cllecting system, which results in multiple cysts and manifests as prgressive renal failure. Disease in the liver is typically diffuse, presenting as prtal and interlbular fibrsis, dilatatin and hyperplasia f bile ducts, r a cmbinatin f bth. Liver disease ultimately results in prtal hypertensin
Diagnosis
The diagnsis f ARPKD is based n clinical findings in the prband and the absence f renal cysts in the parents f the prband. Sequence analysis f PKHD1, the nly gene knwn tbe assciated with ARPKD, is clinically available. Linkage analysis is available fr families with at least ne affected child.