Abstract
Introduction:
The nail-patella syndrome is a rare autosomal dominant condition with high penetrance. Pregnancy in such a patient is rare and we believe this to be the first report of a live birth occurring in a patient with nail-patella syndrome.
Clinical picture:
A 25-year-old patient presented in her first pregnancy with nephrotic syndrome associated with characteristic bone abnormalities and nail dysplasia and was later diagnosed to have nail-patella syndrome. In her second pregnancy, the course of her pregnancy was complicated by further deterioration of renal function with superimposed pre-eclampsia resulting in early delivery at 28 weeks.
Conclusion:
Such pregnancies should be regarded as high risk and managed jointly with the renal physician in a tertiary care centre to ensure an optimal outcome to the mother and baby.
MeSH terms
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Adult
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Anti-Inflammatory Agents / therapeutic use
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Biopsy
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Delivery, Obstetric / methods
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Disease Progression
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Female
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Humans
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Nail-Patella Syndrome / complications
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Nail-Patella Syndrome / diagnosis
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Nail-Patella Syndrome / genetics*
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Nail-Patella Syndrome / therapy*
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Nephrotic Syndrome / complications
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Nephrotic Syndrome / diagnosis
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Nephrotic Syndrome / genetics*
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Nephrotic Syndrome / therapy*
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Obstetric Labor, Premature / etiology
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Obstetric Labor, Premature / therapy
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Parity
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Patient Care Team
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Pre-Eclampsia / complications
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Pre-Eclampsia / diagnosis
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Pre-Eclampsia / genetics*
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Pre-Eclampsia / therapy*
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Prednisolone / therapeutic use
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Pregnancy
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Pregnancy Complications / diagnosis
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Pregnancy Complications / therapy*
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Pregnancy Outcome*
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Pregnancy, High-Risk*
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Prenatal Care / methods
Substances
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Anti-Inflammatory Agents
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Prednisolone