PERINATAL LETHAL FORM OF HYPOPHOSPHATASIA
نویسندگان
چکیده
منابع مشابه
Case 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 کاملPrenatal 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 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 کاملClinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases
Hypophosphatasia is a rare inherited disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. It is classified into 6 subtypes, and the perinatal lethal form of hypophosphatasia is the most severe. Patients with this form suffer from various symptoms, including respiratory failure, premature craniosynostosis, rachitic changes in the metaphyses, convulsions and hypercalcemi...
متن کاملPerinatal lethal osteogenesis imperfecta.
Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, respectively. Point mutations resulting in the substitution of Gly residues in Gly-X-Y amino acid triplets of the triple helical domain of the alpha 1(I) or alpha 2(I) chains are the most frequent mutations. They int...
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ژورنال
عنوان ژورنال: Journal of Ankara Medical School
سال: 2005
ISSN: 1300-5464
DOI: 10.1501/jms_0000000007