Source:http://linkedlifedata.com/resource/pubmed/id/19817772
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2010-5-7
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| pubmed:abstractText |
The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one-third of patients but long-term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD - 11/16 (69%) if only adults were considered -with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5-38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25-48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype-phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
1399-0004
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| pubmed:author |
pubmed-author:AralBernardB,
pubmed-author:BiethEE,
pubmed-author:BinquetCC,
pubmed-author:ChauveauDD,
pubmed-author:CosynsJ-PJP,
pubmed-author:DestreeAA,
pubmed-author:FaivreLL,
pubmed-author:FrancoBB,
pubmed-author:GautierEE,
pubmed-author:GigotNN,
pubmed-author:GouyonJ-BJB,
pubmed-author:HuetFF,
pubmed-author:JoukP-SPS,
pubmed-author:LayetVV,
pubmed-author:LespinasseJJ,
pubmed-author:LoeysBB,
pubmed-author:Masurel-PauletAA,
pubmed-author:MathieuMM,
pubmed-author:MaystadtII,
pubmed-author:MoussonCC,
pubmed-author:SaarUU,
pubmed-author:TeebiAA,
pubmed-author:Thauvin-RobinetCC,
pubmed-author:ToutainAA,
pubmed-author:Van MaldergemLL
|
| pubmed:issnType |
Electronic
|
| pubmed:volume |
77
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
258-65
|
| pubmed:meshHeading |
pubmed-meshheading:19817772-Adolescent,
pubmed-meshheading:19817772-Adult,
pubmed-meshheading:19817772-Aging,
pubmed-meshheading:19817772-Child,
pubmed-meshheading:19817772-Child, Preschool,
pubmed-meshheading:19817772-Cohort Studies,
pubmed-meshheading:19817772-Female,
pubmed-meshheading:19817772-Genetic Association Studies,
pubmed-meshheading:19817772-Humans,
pubmed-meshheading:19817772-Infant,
pubmed-meshheading:19817772-Kidney,
pubmed-meshheading:19817772-Middle Aged,
pubmed-meshheading:19817772-Orofaciodigital Syndromes,
pubmed-meshheading:19817772-Proteins,
pubmed-meshheading:19817772-Renal Insufficiency,
pubmed-meshheading:19817772-Young Adult
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
|
| pubmed:affiliation |
Centre de Génétique, Hôpital d'Enfants, CHU Dijon, France.
|
| pubmed:publicationType |
Journal Article
|