Polycystic kidney disease

Polycystic kidney disease is a disease characterized by the presence of cysts in the renal cortex and / or parenchyma. The presence of the cysts leads to a loss of functional renal parenchyma and may result in renal insufficiency. Based on heredity, we can divide the disease into autosomal dominant and autosomal recessive.

Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD), or adult PKD, is the most common congenital renal disease (incidence 1:1000). There are numerous cortical and medullary cysts that grow and lead to a reduction of the functional parenchyma.

This is most often a mutation in the PKD1 gene on chromosome 16 (90 %). The pathological structural glycoprotein polycystin is formed, which is a building block of the basement membrane of the renal tubules. During the course of life, these incomplete tubules are cystically dilated.

The disease is asymptomatic in most cases, often a random finding in USG. Symptoms include hip or abdominal pain, hematuria, urinary tract infections, nephrolithiasis, hypertension, liver cysts, mitral valve prolapse, intracranial aneurysm, or progressive deterioration in renal function. The above symptoms do not appear until adolescence or middle age.

The diagnosis should be considered in patients who have positive family history and have even mild proteinuria or micro-/ macrohematuria. The diagnosis can be made by USG, excretory urography or CT. ADPKD is also diagnosed when a detective gene is found.

There is no causal therapy. Chronic renal insufficiency, hypertension and urinary tract infections are treated here. Progressive deterioration of renal function in a patient with ADPKD is and indication for transplantation.

Autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD), a juvenile form PKD, is a much rarer birth defect (incidence 1:20 000–40 000) and is caused by a gene mutation in chromosome 6.

It is manifested by the rapid development of renal insufficiency in the postpartum period. In children with this disease, pulmonary hypoplasia, oligohydramnios nor liver fibrosis occur at an early age with development of portal hypertension.

The disease is diagnosed by USG kidney, prenatal dg determination. It is possible from the 24th week of pregnancy.

In this diagnosis, it depends in the correct management of the postpartum period. Later, CHSL or liver failure therapy occurs.