MEDICAL DICTIONARY
Polycystic kidney disease, autosomal recessive: An early onset disorder characterized by the presence of innumerable cysts in the kidney and enlarged kidneys that can usually be detected before birth (by ultrasound) or in the neonatal period. A minority of cases are diagnosed later in childhood.
Pulmonary hypoplasia (underdevelopment of the lungs) is a major cause of disease and death in the newborn period. It is due to oligohydramnios (not enough amniotic fluid) caused by kidney failure before birth. Children who live beyond the first year of life tend to develop kidney failure in the first decade of life and need a kidney transplant.
The gene for the disease is on chromosome 6 but has not been identified.
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