SUCCESSFUL PREGNANCY OUTCOME IN PATIENT WITH NIEMANN-PICK DISEASE TYPE B AND REVIEW OF THE LITERATURE

Turgut E., TANER M. Z., Bayram M., KARÇAALTINCABA D.

ACTA ENDOCRINOLOGICA-BUCHAREST, cilt.19, sa.1, ss.108-111, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 19 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.4183/aeb.2023.108
  • Dergi Adı: ACTA ENDOCRINOLOGICA-BUCHAREST
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Sayfa Sayıları: ss.108-111
  • Gazi Üniversitesi Adresli: Evet

Özet

Niemann-Pick disease (NPD), is a rare autosomal B are caused by homozygous or compound heterozygous mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene on chromosome 11p15. Type B is panethnic, although its frequency is increased in Turkish, Arabic and among patients. It is a rare condition and information about its management an outcome during pregnancy and labor is limited. Both maternal mortality and morbidity due to severe postpartum hemorrhage has been reported. We represent a type B. Type of mutations in SMPD 1 gene and severity of disease before pregnancy can predict the prognosis of pregnancy.