Hereditary Renal Diseases
- Jul 29, 2010
The importance of inheritance and the familial incidence of disease warrant the inclusion of a classification of hereditary renal diseases. Although relatively uncommon in the population at large, hereditary renal disease must be recognized to permit early diagnosis for detection and genetic counseling.
Chronic Hereditary Nephritis
Evidence of the disease usually appears in childhood, with episodes of hematuria. Renal insufficiency commonly develops in males but only rarely in females. Survival beyond age 40 is rare.
In many families, deafness and abnormalities of the eyes accompany the renal disease (so-called Alport disease). Another form of the disease is accompanied by polyneuropathy. Infection of the urinary tract is a common complication.
There is splitting and thickening of the GBM or podocyte proliferation and thickening of Bowman’s capsule. Recently, kindreds have been described that have “thin-membrane disease.” This condition is characterized by microscopic hematuria and, often, later progression to chronic renal failure. This, like Alport disease, may represent inherited abnormalities or deficiencies in type IV collagen in the GBM. This affects both genders.
Laboratory findings with these conditions are commensurate with existing renal function. Treatment is symptomatic.
Cystic Diseases of the Kidney
Congenital structural anomalies of the kidney must be considered in any patient with hypertension, pyelonephritis, or renal insufficiency. Many of these patients are at increased risk of urinary tract infection.
A. Polycyctic Kidneys
Polycystic kidney disease is familial and often involves not only the kidney but the liver and pancreas as well. It is clear that at least 2 genetic loci can lead to autosomal dominant polycystic kidney disease.
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