Consecutive successful pregnancies of a patient with nail-patella syndrome


FADILOĞLU E. , ÜNAL C. , ÖRGÜL G. , TANAÇAN A. , Beksac M. S.

CASE REPORTS IN PERINATAL MEDICINE, cilt.7, 2018 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 7 Konu: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/crpm-2018-0016
  • Dergi Adı: CASE REPORTS IN PERINATAL MEDICINE

Özet

Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). Renal involvement of these patients requires close followup in pregnancy to avoid complications like preeclampsia. In this report, we have presented two consecutive successful pregnancies of a patient with nail-patella syndrome. The first pregnancy resulted with a newborn with nail-patella syndrome and the second pregnancy resulted in a healthy newborn without any obstetric complications. Renal functions were closely followed-up during both pregnancies, and basal renal functions were normal in the pregestational period, which seems to be the most important predictor of obstetric hypertensive complications. Prenatal diagnosis of nail-patella disease is also challenging due to several possible mutations and a wide range of phenotypes of the disease. Ultrasonographic examination findings may be suspicious for the disease in the fetus like patellar hypoplasia or joint contractures.