Linked Life Data

10546096

Source:http://linkedlifedata.com/resource/pubmed/id/10546096

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-1-6
pubmed:abstractText
Renal agenesia is one of the more common urinary malformations. Renal agenesia can be unilateral, more frequently, or bilateral. This malformation can be isolated or present with other urinary and/or extra urinary anomalies. We report a family with renal agenesia. The proband was a fetus. Ultrasonographic examination at 15 weeks of gestation showed a left renal agenesia and a right multicystic kidney, absence of bladder and oligohydramnios. The same features were found at 19 weeks of gestation. The couple asked for termination of pregnancy. On pathologic examination the absence of left kidney was confirmed whereas the right kidney which measured 3.5 cm was filled with numerous cysts of 0.2 cm to 1 cm. of diameter and fibrosis. According to the Potter's classification these images are characteristic of a dysplasia type II. There was no hepatic fibrosis. Family history revealed that the mother is in good health, she had previously a normal son. The father had a unilateral renal agenesia which was diagnosed after he had arterial hypertension when he was 25-years-old. The paternal grand father and his brother had unilateral renal agenesia which was shown by screening. This family shows that renal agenesia can be autosomal dominantly inherited and that the expressivity of this anomaly is variable.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
251-7
pubmed:dateRevised
2006-7-6
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Hereditary renal adysplasia in a three generations family.
pubmed:affiliation
Service de génétique médicale, Centre Hospitalo-Universitaire, Strasbourg.
pubmed:publicationType
Journal Article, Case Reports