Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Renal hypoplasia

Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.

Proteinuria

Increased levels of protein in the urine.

Total: 1

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PMID (PMCID)
17245395	MIXED_SAMPLE	Child
	The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
	Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F. Kidney Int. 2007;71(6):574-81.
	The phenotype showed a variety of symptoms such as urinary concentration defect, vesicoureteral reflux, urinary tract infections, hyperuricemia, hypertension, proteinuria, and renal hypoplasia.