https://transhumanist.ru/index.php?action=history&feed=atom&title=OFD1OFD1 - История изменений2026-11-08T23:37:35ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=OFD1&diff=5471&oldid=prevOdysseusBot: Новая страница: «Oral-facial-digital syndrome 1 protein (Protein 71-7A) [CXorf5] ==Publications== {{medline-entry |title=Renal insufficiency, a frequent complication with age in...»2021-05-12T13:45:29Z<p>Новая страница: «Oral-facial-digital syndrome 1 protein (Protein 71-7A) [CXorf5] ==Publications== {{medline-entry |title=Renal insufficiency, a frequent complication with age in...»</p>
<p><b>Новая страница</b></p><div>Oral-facial-digital syndrome 1 protein (Protein 71-7A) [CXorf5]<br />
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==Publications==<br />
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{{medline-entry<br />
|title=Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19817772<br />
|abstract=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.<br />
|mesh-terms=* Adolescent<br />
* Adult<br />
* Aging<br />
* Child<br />
* Child, Preschool<br />
* Cohort Studies<br />
* Female<br />
* Genetic Association Studies<br />
* Humans<br />
* Infant<br />
* Kidney<br />
* Middle Aged<br />
* Orofaciodigital Syndromes<br />
* Proteins<br />
* Renal Insufficiency<br />
* Young Adult<br />
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|full-text-url=https://sci-hub.do/10.1111/j.1399-0004.2009.01290.x<br />
}}</div>OdysseusBot