Neonatal lethal hypophosphatasia
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Severe Perinatal (Lethal) Hypophosphatasia
HPP is a clinically heterogeneous disease and classified into at least six forms according to severity and age of onset: perinatal (lethal), perinatal (benign), infantile (MIM [Mendelian Inheritance in Man] # 241500), childhood (MIM# 241510), adult (MIM# 146300), and odontohypophosphatasia (Mornet, 2008) (Table 1). All forms of HPP display reduced activity of unfractionated serum ALP and the pr...
متن کاملCase Report: Perinatal Lethal Form of Hypophosphatasia
There is no approved curative treatment of hypophosphatasia and management consists of palliating the symptoms, maintaining calcium balance and applying physical, occupational, dental and orthopedic interventions as necessary [2] . Enzyme replacement using human recombinant bone targeted alkaline phosphatase which has been tried in infants and juveniles provides promise for improving the outcom...
متن کاملSuccessful gene therapy in utero for lethal murine hypophosphatasia.
Hypophosphatasia (HPP), caused by mutations in the gene ALPL encoding tissue-nonspecific alkaline phosphatase (TNALP), is an inherited systemic skeletal disease characterized by mineralization defects of bones and teeth. The clinical severity of HPP varies widely, from a lethal perinatal form to mild odontohypophosphatasia showing only dental manifestations. HPP model mice (Akp2(-/-)) phenotypi...
متن کاملPrenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations of the TNSALP gene. We report here the prenatal diagnosis of the perinatal (lethal) type of hypophosphatasia in a sibling of an affected infant. The infant had been found to have hypop...
متن کاملA Rare Case of Neonatal Hypophosphatasia: A Case Report
Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal intensive care unit (NICU). Prenatal ultrasound showed limb hypoplasia, skull hypomineralization, and polyhydramnios. Seizures occurred on day...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Medicine
سال: 2018
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000013269