Which of the following statements about polycystic kidney disease is true
Correct Answer: Nephrotic range proteinuria is an uncommon finding
Description: Autosomal dominant polycystic kidney disease is one of the most common hereditary disorders. Spontaneous mutations occur but account for only 10% or fewer of all cases. The majority of cases are linked to a causative gene located on the short arm of chromosome 16, referred to as ADPKD1. A second causative gene (ADPKD2) has not been identified but seems to be at a locus distinct from ADPKDI, which appears to be the cause of the gene in -90% of families in the white population.
A rare syndrome known as autosomal recessive polycystic kidney disease affects between 1 in 10,000 and 1 in 40,000 individuals in the United States, and the causative gene has been localized to chromosome. Patients are typically diagnosed during the first year of life, presenting with bilateral abdominal masses. Death in the neonatal period is common due to pulmonary hypoplasia.
The most common complication of polycystic kidney disease is pain secondary to large cystic kidneys; in addition, most patients are hypertensive. In addition to the chronic pain, acute pain may represent cystic hemorrhage,infection, or, less commonly, a renal stone. Proteinuria occurs in about 1/3 of patients but is typically mild, with < 1 g per 24-h collection. The rare patient with nephrotic-range proteinuria often has superimposed glomerular disease.
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