title: Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
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.
authors.affiliation: Centre de Génétique, Hôpital d'Enfants, CHU Dijon, France.
authors.forename: S
authors.initials: S
authors.lastname: Saal
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: Bernard
authors.initials: B
authors.lastname: Aral
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authors.initials: N
authors.lastname: Gigot
authors.forename: A
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authors.lastname: Toutain
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
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authors.initials: A
authors.lastname: Destree
authors.forename: I
authors.initials: I
authors.lastname: Maystadt
authors.forename: J-P
authors.initials: JP
authors.lastname: Cosyns
authors.forename: P-S
authors.initials: PS
authors.lastname: Jouk
authors.forename: B
authors.initials: B
authors.lastname: Loeys
authors.forename: D
authors.initials: D
authors.lastname: Chauveau
authors.forename: E
authors.initials: E
authors.lastname: Bieth
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authors.lastname: Layet
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authors.lastname: Mathieu
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: A
authors.initials: A
authors.lastname: Teebi
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: E
authors.initials: E
authors.lastname: Gautier
authors.forename: C
authors.initials: C
authors.lastname: Binquet
authors.forename: A
authors.initials: A
authors.lastname: Masurel-Paulet
authors.forename: C
authors.initials: C
authors.lastname: Mousson
authors.forename: J-B
authors.initials: JB
authors.lastname: Gouyon
authors.forename: F
authors.initials: F
authors.lastname: Huet
authors.forename: C
authors.initials: C
authors.lastname: Thauvin-Robinet
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008875:Middle Aged; D009958:Orofaciodigital Syndromes / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D011506:Proteins / Q000235:genetics; D051437:Renal Insufficiency / Q000209:etiology*; D055815:Young Adult
chemical_list: C115130:OFD1 protein, human; D011506:Proteins