Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia


Haliloglu B., GÜRAN T. , Atay Z., Abali S., Mornet E., BEREKET A. , ...Daha Fazla

EUROPEAN JOURNAL OF PEDIATRICS, cilt.172, ss.851-853, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 172 Konu: 6
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1007/s00431-012-1868-4
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.851-853

Özet

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 mu mol/mmol (reference range, < 25 mu mol/mmol) and serum pyridoxal-5'-phosphate of 393 mu g/L (reference range, 3.6-18 mu g/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.