Tuberous sclerosis and polycystic kidney disease.
نویسندگان
چکیده
منابع مشابه
Tuberous sclerosis and polycystic kidney disease. A case report.
Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormaliti...
متن کاملTuberous Sclerosis and Polycystic Kidney Disease: A Rare Association.
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old fema...
متن کاملTuberous sclerosis presenting with acute kidney failure, pyelonephritis, and polycystic kidney disease.
Tuberous sclerosis complex (TSC) is a multisystemic inherited autosomal dominant disease characterized by the development of hamartomas in the brain and kidneys. In about 2% of patients, polycystic kidney disease is present, which may result in different stages of renal insufficiency. Acute kidney failure has not been reported in infants with TSC. We report a female infant with TSC who was admi...
متن کاملTuberous sclerosis presented with polycystic kidney disease and acute renal failure.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomatous involvement of multiple organs such as the skin, central nervous system, kidneys, lungs, and heart. A linkage has been found with a locus on the long arm of chromosome 9 (9q34) and with a locus on the short arm of chromosome 16 (16p13). TSC has a birth incidence of 1/6000. Children with TSC are alm...
متن کاملNeonatal presentation of autosomal dominant polycystic kidney disease with a maternal history of tuberous sclerosis.
BACKGROUND Childhood presentation of polycystic kidney disease has been reported with tuberous sclerosis complex (TSC). Recently some such cases have been shown to be due to combined deletion of the PKD1 and TSC2 genes, which lie close together on chromosome 16. The phenomenon of anticipation, whereby disease presentation occurs at a progressively earlier age in each generation, has been sugges...
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ژورنال
عنوان ژورنال: BMJ
سال: 1993
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.306.6887.1258