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Genetic disorder frequently producing renal failure in
childhood. It is the most common genetically determined childhood cystic
disease of the kidneys. Congenital malformation of the collecting tubules.
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A polycystic kidney disease classification has been
described by E.L. Potter in 1964 (see Table P-1).
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1:10,000 to 1:40,000 live births. The age distribution
of cases has two peaks, one at birth and one between the ages of 30 and 60
years.
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Autosomal recessive PKD is a neonatal disease that has
been associated to a gene map locus at 6p21.1-p12. The later form is believed to be a
familial pattern of an autosomal dominant inheritance. Both sexes are affected. There
is also a form of renal cystic disease not inherited and described as the acquired cystic kidney
disease, which develops in those individuals with long-term kidney problems.
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There is distention of the renal collecting
tubules caused by localized proliferation and aberrant secretion of
epithelial cells. The expanding structures develop into cysts that are
filled with fluid containing biologically active ligands for the epidermal
growth factor receptor (EGFR), such as epidermal growth factor and
transforming growth factor-alpha. The EGFR, normally localized at the
basolateral surfaces of the collecting tubule epithelium, becomes
mislocalized to the apical surface on the cells lining cystic structures.
This mislocalization of EGFR is a common end point associated with several
different forms of PKD that are ...