Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome
نویسندگان
چکیده
منابع مشابه
Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failure is the commonest cause of death in this syndrome. The EIF2AK3 gene encodes a transmembrane pro...
متن کاملMulticystic dysplastic kidney and Kallmann's syndrome: a new association?
BACKGROUND Kallmann's syndrome is characterized by anosmia and hypogonadotrophic hypogonadism. Radiographic studies of teenagers and older subjects with the X-linked form of the syndrome have shown that up to 40% have an absent kidney unilaterally. Although this has been attributed to renal "agenesis", a condition in which the kidney fails to form, little is known about the appearance of the de...
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 in association with congenital ichthyosiform erythroderma.
Multicystic dysplastic kidney is a noninherited congenital disease. Association of this disease with abnormalities of various organs is common. We, however, report a rare case of multicystic dysplastic kidney associated with congenital ichthyosiform erythroderma in an infant. Different developmental origins of the skin and the kidney can explain the scarcity of concurrent congenital skin and ki...
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ژورنال
عنوان ژورنال: Endocrinology, Diabetes & Metabolism Case Reports
سال: 2017
ISSN: 2052-0573
DOI: 10.1530/edm-17-0090