Multicystic Dysplastic Kidney and Variable Phenotype in a Family with a Novel Deletion Mutation of PAX2
نویسندگان
چکیده
منابع مشابه
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings in these patients include renal hypoplasia, renal insufficiency, vesicoureteric reflux, and optic disc coloboma. A family with a novel heterozygous 10-bp deletion in exon 2 of the PAX2 gene leading to a truncating mutation and variable phenotype across three generations is reported. The first pre...
متن کاملMulticystic dysplastic kidney.
We reviewed 29 cases of congenital multicystic dysplastic kidneys. Isolated renal pelvic atresia has an excellent prognosis but lower ureteral atresias are associated with a high incidence of contralateral renal disease and have a worse prognosis.
متن کاملMulticystic Dysplastic Kidney
Multicystic dysplastic kidney (MCDK) is a renal abnormality that contains multiple cysts of various shapes and sizes in the kidney. Unilateral MCDK is very common in children and usually is associated with other contralateral anomalies. There are a few different etiology theories that are being evaluated, but the origination is still uncertain. Although there is no cure for MCDK, there are a fe...
متن کاملMulticystic dysplastic kidney: a retrospective study.
OBJECTIVE To report the renal structural and functional anomalies in children with multicystic dysplastic kidneys. METHODS Retrospective descriptive analysis of 47 children with multicystic dysplastic kidney seen in a pediatric nephrology unit over a period of 6 years. RESULTS Antenatal diagnosis of multicystic dysplastic kidney was made in 34 (72.3%) patients. On follow up of 31 children f...
متن کاملMulticystic dysplastic disease of kidney in fetus.
Multicystic kidney disease remains the commonest cause of abnormally enlarged kidney, diagnosed on antenatal ultrasound examination. It is typically a unilateral disorder; bilateral condition is incompatible with extra uterine life. Survival is associated with higher risk ofWilm's tumor and Renal cell carcinoma. Diagnosis is facilitated by ultrasonography. Respiratory compromise on account of m...
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ژورنال
عنوان ژورنال: Journal of the American Society of Nephrology
سال: 2005
ISSN: 1046-6673,1533-3450
DOI: 10.1681/asn.2005030239