Linked Life Data

7106736

Source:http://linkedlifedata.com/resource/pubmed/id/7106736

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1982-10-12
pubmed:abstractText
This report describes two siblings, male and female, with a distinctive hereditary hepatorenal disorder. Review of the literature indicates that 11 cases have been reported outside the United States. The condition may first develop from early infancy to adolescence, and it is characterized in the great majority of instances by clinically severe renal disease. At some time in the course of the disease, hepatomegaly is present in all patients, and splenomegaly is common. Additional lesions and other abnormalities, including retinal lesions, mental retardation, cerebellar and osseous abnormalities, have been reported in some patients. Histologically, the renal lesion resembles nephronophthisis, and the hepatic lesion resembles congenital hepatic fibrosis. Mortality (due to the renal disease) is very high, and the longest-surviving patient was 14 years old at the time of death.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0046-8177
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
728-33
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
"Nephronophthisis-congenital hepatic fibrosis": an additional hepatorenal disorder.
pubmed:publicationType
Journal Article, Case Reports