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Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

(2010) CLINICAL GENETICS. 77(3). p.258-265
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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.
Keywords
POLYCYSTIC KIDNEY-DISEASE, PROTEIN, OFD 1, polyaplic kidney disease

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Chicago
Saal, S, L Faivre, B Aral, N Gigot, A Toutain, L Van Maldergem, A Destree, et al. 2010. “Renal Insufficiency, a Frequent Complication with Age in Oral-facial-digital Syndrome Type I.” Clinical Genetics 77 (3): 258–265.
APA
Saal, S., Faivre, L., Aral, B., Gigot, N., Toutain, A., Van Maldergem, L., Destree, A., et al. (2010). Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. CLINICAL GENETICS, 77(3), 258–265.
Vancouver
1.
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, et al. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. CLINICAL GENETICS. 2010;77(3):258–65.
MLA
Saal, S, L Faivre, B Aral, et al. “Renal Insufficiency, a Frequent Complication with Age in Oral-facial-digital Syndrome Type I.” CLINICAL GENETICS 77.3 (2010): 258–265. Print.
@article{1016264,
  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.},
  author       = {Saal, S and Faivre, L and Aral, B and Gigot, N and Toutain, A and Van Maldergem, L and Destree, A and Maystadt, I and Cosyns, JP and Jouk, PS and Loeys, Bart and Chauveau, D and Bieth, E and Layet, V and Mathieu, M and Lespinasse, J and Teebi, A and Franco, B and Gautier, E and Binquet, C and Masurel-Paulet, A and Mousson, C and Gouyon, JB and Huet, F and Thauvin-Robinet, C},
  issn         = {0009-9163},
  journal      = {CLINICAL GENETICS},
  keyword      = {POLYCYSTIC KIDNEY-DISEASE,PROTEIN,OFD 1,polyaplic kidney disease},
  language     = {eng},
  number       = {3},
  pages        = {258--265},
  title        = {Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I},
  url          = {http://dx.doi.org/10.1111/j.1399-0004.2009.01290.x},
  volume       = {77},
  year         = {2010},
}

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