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Correlation of genotype and phenotype in children with autosomal dominanat polycystic kidney disease
Fencl, Filip ; Seeman, Tomáš (advisor) ; Doležel, Zdeněk (referee) ; Merta, Miroslav (referee) ; Nečas, Emanuel (referee)
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent inherited renal disorder with an incidence of 1:500-1:1000. It is characterized by progressive development of renal cysts leading to deterioration of renal function and chronic renal failure in adults. Other common renal complications are hypertension, proteinuria, macrohaematuria and urinary tract infections. Extrarenal complications include the cardiovascular system, gastrointestinal system and connective tissue abnormalities - most common are cardiac valve abnormalities, cerebral berry aneurysms and hepatic, pancreatic or spleen cysts, and herniae of the anterior abdominal wall. ADPKD is caused by mutation in one of two known genes - PKD1 (85% of patients) or PKD2 (14%). A proposed third gene PKD3 (about 1%) has not yet been localised. Many studies in adults have shown that patients with mutations in the PKD2 gene have a better prognosis than PKD1 patients. The mean age at end stage renal disease (ESRD) or death was 53 yrs in PKD1 and 69 yrs in PKD2, the mean age at ESRD in PKD1 was 54 yrs, in PKD2 74 yrs and the patients with PKD1 mutations had a four times higher prevalence of arterial hypertension. The cyst number and the volume of the cysts are higher in PKD1 than in PKD2 patients. Several studies have...
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