Abstract
The incidence of the autosomal recessive polycystic kidney disease (ARPKD) is ca 1 : 10 000. There are 2 mainforms of ARPKD, one with an early onset, the second on starting later, both combined with liver fibrosis.
On thebasis of recent studies we have to correct our previous idea that ARPKD patients are dying very early. A significantnumber of these children may reach adolescence and even adulthood.
Then, the leading symptoms may shift fromrenal problems (dialysis or renal Tx) due to chronic renal failure to hepatic problems (including liver Tx). Thereis a significant progress in molecular genetic analysis, the ARPKD gene is mapped to chromosome 6p21-cen anda linkage analysis enables even prenatal diagnostics.
The parents should be fully informed on the unfavourablelate prognosis of ARPKD. Now, the opinion prevails, that pregnancy of affected individuals should be terminated.The incidence of the autosomal dominant polycystic kidney disease (APKD) is much higher than ARPKD: 1 :1000.
The majority of patients have severe symptoms only in the 5 - 6th decade including chronic renal failure.There are ca 10% patients with ADPKD among the population of the renal replacement therapy program. Thereare reports of early renal damage in children with ADPKD.
The authors of this review established a register ofpatients with polycystic kidney disease in the Czech Republic, mostly ADPKD. In a group of 71 ADPKD childrenthe ultrasound examination revealed a high frequency of cysts (95.8%!) in enlarged kidneys (kidney length andvolume higher the +2s in 36 - 44%).
Ambulatory blood pressure monitoring revealed hypertension in ca 1/3,microalbuminuria in ca 2/3 and decreased urine concentrating capacity in ca 2/3 affected children. These findingssupport the idea of early care of patients with ADPKD, which must start in childhood.
Molecu lar diagnostics area routine procedure, the PKD1 and PKD2 genes are mapped to chromosome 16., resp. 4 and the examination isfree available in the Czech Republic.