Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
(2010) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 77, n° 3, p. 258-265 (2010)
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- 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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Saal, S., Faivre, L., Aral, B., Gigot, N., Toutain, A., Van Maldergem, L., Destree, A., Maystadt, I., Cosyns, J.-P., Jouk, P.-S., Loeys, B., Chauveau, D., Bieth, E., Layet, V., Mathieu, M., Lespinasse, J., Teebi, A., Franco, B., Gautier, E., et al. (2010). Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clinical Genetics : an international journal of genetics and molecular medicine, 77(3), 258-265. https://doi.org/10.1111/j.1399-0004.2009.01290.x (Original work published 2010)