Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1 |
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| Authors: | Dickinson, Steven Carr, Susan Zoysa, Janak de Barratt, Jonathan |
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| Affiliation: | 1 The John Walls Renal Unit, Leicester General Hospital, Gwendolen Road, Leicester, LE5 4PW, UK
2 Department of Renal Medicine, Auckland City Hospital, Park Road, Grafton, Auckland, Private Bag 92024, New Zealand |
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| Abstract: | | Introduction | Oral-facial-digital (OFD) syndrome type 1 is a rare X-linkeddominant condition caused by mutations in the OFD1 gene on Xp22,which is lethal in affected males [1]. Females display a highlyvariable expressivity of polycystic kidneys, oral, facial anddigital abnormalities. Structural central nervous system anomaliesmay occur and some affected females have intellectual disability.The diagnosis is usually made in childhood, although occasionallythe condition may not be identified until later adulthood. Wedescribe an unusual presentation of cystic renal disease ina 34-year-old pregnant woman, who was subsequently found tohave OFD syndrome type 1. Case report | A 34-year-old lady was referred at 16-week gestation to thecombined renal obstetrics service, with deteriorating renalfunction, urea 7.8 mmol/l and creatinine 174 µmol/l. Shewas hypertensive (158/98 mmHg), 24-h urine protein excretionwas 0.23 g/24 h and creatinine clearance 36 ml/min. She wastaking no regular medications.
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| Keywords: | ciliopathies cystic kidney disease oral-facial-digital syndrome type 1 |
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