Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.
Eur J Pediatr
; 172(6): 851-3, 2013 Jun.
Article
em En
| MEDLINE
| ID: mdl-23093139
ABSTRACT
Hypophosphatasia is a hereditary disorder characterized by a deficiency of serum and bone alkaline phosphatase (ALP) activity and defective skeletal mineralization. It is caused by a loss of function mutations in the tissue nonspecific ALP gene (TNSALP) encoding the tissue nonspecific alkaline phosphatase. A 4-year-and-8-month-old girl presented with premature exfoliation of the anterior incisors and canines. Very low ALP level (27 IU/ml) suggested the diagnosis of hypophosphatasia, which was supported by an elevated urine phosphoethanolamine/Cr of 84 µmol/mmol (reference range, <25 µmol/mmol) and serum pyridoxal-5'-phosphate of 393 µg/L (reference range, 3.6-18 µg/L). The phenotype of the patient was subsequently classified as mild childhood hypophosphatasia. TNSALP gene sequencing revealed the homozygous c.382 G > A (p.V128M) mutation. This mutation was previously observed in a series of patients with severe hypophosphatasia, pointing out the possible role of other genetic or environmental factors in the modulation of the hypophosphatasia phenotype.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Perda de Dente
/
Desmineralização do Dente
/
Hipofosfatasia
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Pediatr
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Turquia