Linked Life Data

11434182

Source:http://linkedlifedata.com/resource/pubmed/id/11434182

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
58
pubmed:dateCreated
2001-7-3
pubmed:abstractText
Branchio-oto-renal syndrome is a rare autosomal dominant disorder of the first and second embryonic branchial arches and the urinary tract. It is characterized in its full expression by branchial fistulas or cysts, preauricular pits, outer, middle and inner ear defects, hearing loss, lachrymal duct stenosis, facial paralysis and mental retardation. Renal anomalies may range from mild hypoplasia to complete absence. Our report demonstrates the patient with classical BOR syndrome and severe renal insufficiency since infancy up to end stage renal failure at 18 years of age caused by bilateral renal hypoplasia. Although no definitive histological diagnosis was made, the clinical findings in our patients, like mild proteinuria, normal blood pressure, polyuria, polydypsia, hyperchloremic acidosis and typical course of renal failure support the diagnosis of oligomeganephronia in this case.
pubmed:language
pol
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1426-9686
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
291-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure].
pubmed:affiliation
Klinika Pediatrii i Nefrologii Akademii Medycznej w Lublinie.
pubmed:publicationType
Journal Article, English Abstract, Case Reports