Polycystic kidney disease causes
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Polycystic kidney disease is a genetic disorder. Autosomal dominant polycystic kidney disease (ADPKD) is an autosomal dominant disorder due to the heterozygous inheritance of PKD1 (chromosome 16) or PKD2 (chromosome 4) gene mutations. Despite the disease being monogenic, phenotype is variable possibly due to a two-hit process, haploinsufficiency, or environmental factors. Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the PKHD1 gene.
- Autosomal dominant polycystic kidney disease (ADPKD) is caused by a mutation in either the PKD1 gene or PKD2 gene.
- ADPKD is an inherited disorder with 2 possible etiologic mutations.
- PKD1 mutations found on short arm of chromosome 16 (16p13.3) accounts for roughly 85% of cases.
- PKD2 mutations found on the long arm of chromosome 4 (4q21) account for 15% of the remaining cases.
- All cases of ADPKD are heterozygous for either PKD mutations or both.
- Homozygous cases usually die in utero.
- Generally, PKD1 mutants have more severe renal disease with mean age at onset of ESRD around 50 years compared to 75 years in PKD2 mutants.
- Patients heterozygous for both mutations have the most severe renal manifestations.
- Despite the monogenic nature of the disease, the phenotype and severity of the disease as well as the extrarenal manifestations have been known to vary even within the same family.
- Several mechanisms have been proposed to explain this variability including:
- Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the PKHD1 gene
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