Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease

Coll, Elisabet; Torra, Roser; Pascual, Julio; Botey, A; Ara, Jordi; Pérez, L; Ballesta, Francisca; Darnell, A

doi:10.1093/ndt/12.5.1040

Cited by 23 publications

(16 citation statements)

References 4 publications

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“…The kidneys are usually normal in size or palpably enlarged. Some cases with end-stage renal disease (ESRD) and Caroli's disease have also been reported (2,(16)(17)(18). Some cases with end-stage renal disease (ESRD) and Caroli's disease have also been reported (2,(16)(17)(18).…”

Section: Introductionmentioning

confidence: 99%

“…At ultrasound (US), there are minimal changes of renal contour, with multiple small cysts distributed in the renal parenchyma, which could be associated to liver and pancreas cysts (3,15,16). Some cases with end-stage renal disease (ESRD) and Caroli's disease have also been reported (2,(16)(17)(18). The frequency of PKD in OFD I has been estimated from 15% to 50% (4,5), but the real frequency and incidence with age of ESRD outcome has never been reported in the literature.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 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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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2010

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“…Several case reports have identified periodontal disease in subjects with orofaciodigital syndrome type I. The clinical observations associated with orofaciodigital syndrome type I included periodontal disease in four out of six black female subjects (75), a 41‐year‐old woman (13) and a 48‐year‐old woman (26), as well as ‘hyperplastic’ gingiva in a pregnant mother (86).…”

Section: X‐linked Genetic Diseases and The Periodontiummentioning

confidence: 99%

Do X‐linked diseases affect periodontal health?

Chien¹,

Hart²

2012

Periodontology 2000

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Genetic factors play an important etiologic role in destructive periodontal diseases. There have been reports that sex chromosomes, especially disorders associated with the X chromosome, affect periodontal health. Although numerous X-linked diseases have been reported to be associated with various periodontal diseases, the association of gingivitis and/or periodontitis with these genetic syndromes should be considered tenuous and raises the question of whether the periodontal manifestation truly arises from an underlying X-linked genetic etiology. A brief overview of genetics in relation to sex chromosomes and putative X-linked genetic periodontal diseases is given.

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“…Although the external features of OFD I are well described and the occurrence of polycystic kidney disease (PKD) in OFD I is well established [Coll et al, 1997; Connacher et al, 1987; Curry et al, 1992; Doege et al, 1964; Donnai et al, 1987; Feather et al, 1997; Harrod et al, 1976; Kennedy et al, 1991; Majewski et al, 1972; McLaughlin et al, 2000; Odent et al, 1998; Saal et al, 2010; Sabato et al, 1998; Salinas et al, 1991; Scolari et al, 1997; Stapleton et al, 1982; Stoll and Sauvage 2002; Toprak et al, 2006], liver and pancreas involvement have not been recognized to the same degree.…”

Section: Introductionmentioning

confidence: 99%

Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I)

Chetty-John

Piwnica–Worms

Bryant

et al. 2010

American J of Med Genetics Pt A

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OFD I is an X-linked dominant male-lethal ciliopathy characterized by prominent external features including oral clefts, hamartomas or cysts of the tongue, and digital anomalies. Although these external features are easy to recognize and often lead to diagnosis in early childhood, visceral findings in OFD I, especially the fibrocystic liver and pancreas disease, are under-recognized. In addition, while the occurrence of polycystic kidney disease (PKD) in OFD I is well known, few patients are evaluated and monitored for this complication. We report on two adult females diagnosed with OFD I in infancy, but not evaluated for visceral involvement. In adulthood, they were incidentally found to have severe hypertension and chronic renal insufficiency due to undiagnosed PKD. A pancreatic cystic lesion, also discovered incidentally, was thought to be malignant and led to consideration of major surgery. We present NIH evaluations, including documentation of OFD1 mutations, extreme beading of the intrahepatic bile ducts, pancreatic cysts, and tabulate features of reported OFD I cases having hepatic, pancreatic and renal cystic disease. Liver and pancreas are not routinely evaluated in OFD 1 patients. Increased awareness and lifelong monitoring of visceral complications, particularly involving the liver, pancreas, and kidney, are essential for timely and accurate treatment.

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Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease

Cited by 23 publications

References 4 publications

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

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

Do X‐linked diseases affect periodontal health?

Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I)

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