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Familial cystic renal disease
- ... of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002 Dec; ... of mutation in uromodulin disorders: autosomal dominant medullary cystic ... hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney ...
- ... clinical and molecular findings in six large Cypriot families. Kidney Int. 2002 Oct;62(4):1385-94. doi: 10.1111/j.1523-1755.2002.kid581.x. Citation on PubMed
- ... the pattern in which it is passed through families. The autosomal dominant ... dominant polycystic kidney disease can be further divided into type 1 and ...
- ... I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter ...
- ... develop in the kidneys beginning in childhood. These cysts impair kidney ... end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD ...
- ... fatigue). In addition, affected individuals develop fluid-filled cysts in the ... renal disease (ESRD), a life-threatening failure of kidney function ...
- ... with this condition may develop life-threatening kidney (renal) abnormalities that ... sacs (cysts) in the pancreas, dental abnormalities, and an eye ...
- ... susceptible to breakage.People with HANAC syndrome develop kidney disease (nephropathy). Fragile or damaged blood vessels or basement membranes in the kidneys can lead to blood in the urine (hematuria). Cysts can also form in one or both kidneys, ...
- ... elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. ...
- ... life-threatening kidney failure and end-stage renal disease.CAKUT is often ... renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks ...