MON-361 Late Diagnosis in Adult 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 کاملHypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form.
Hypophosphatasia is a rare disease characterized by low serum levels of tissue non-specific alkaline phosphatase (TNSALP) and a spectrum of skeletal disease varying from the severest form with death in utero to mild with no clinical abnormality in adults. Currently, the diagnosis of hypophosphatasia is made on the basis of clinical findings, radiography, low serum alkaline phosphatase levels an...
متن کاملHypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.
UNLABELLED Hypophosphatasia is characterized by deficiency of serum alkaline phosphatase with defective bone and teeth mineralization. We report on an 11-month-old boy who developed a complex clinical picture characterized by bulging anterior fontanelle, growth failure, nephrocalcinosis and impaired bone mineralization during high-dose calcium and vitamin D supplementation. This therapy had bee...
متن کاملPrenatal diagnosis of hypophosphatasia congenita using ultrasonography
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and ost...
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...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.1538