Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
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.
Saal
S
S
Centre de Génétique, Hôpital d'Enfants, CHU Dijon, France.
Faivre
L
L
Aral
Bernard
B
Gigot
N
N
Toutain
A
A
Van Maldergem
L
L
Destree
A
A
Maystadt
I
I
Cosyns
J-P
JP
Jouk
P-S
PS
Loeys
B
B
Chauveau
D
D
Bieth
E
E
Layet
V
V
Mathieu
M
M
Lespinasse
J
J
Teebi
A
A
Franco
B
B
Gautier
E
E
Binquet
C
C
Masurel-Paulet
A
A
Mousson
C
C
Gouyon
J-B
JB
Huet
F
F
Thauvin-Robinet
C
C
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
C115130:OFD1 protein, human; D011506:Proteins