Pregnancy in patient with X-linked hypophosphatemic rickets – management and outcome

Abstract

Introduction: X-linked hypophosphatemia (XLH) is a genetically determined disorder inherited as a dominant trait associated with mutation within the PHEX gene. Phenotypic presentation of XLH ranges from isolated hypophosphatemia to severe lower-extremity bowing. Case Report: Preterm hypotrophic infant was born to a mother with a history of XLH, arterial hypertension, and aortic valve insufficiency. The course of pregnancy was complicated by severe symmetric intrauterine growth restriction (IUGR), abnormal umbilical artery flow, and fetal heart rate decelerations during the non-stress test. Discussion: Occurrence of IUGR was most probably due to severe maternal disorders, as no data suggesting association between XLH in mother and symmetric IUGR is available. XLH, treatment side effects, and secondary hyperparathyroidism may manifest by variety of medical conditions including nephrocalcinosis, hypertension or heart disease. Proper management of pregnancy in this group of patients requires appropriate preconception counseling and multidisciplinary approach during pregnancy and after delivery.