Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia
EUROPEAN JOURNAL OF PEDIATRICS, cilt.172, sa.6, ss.851-853, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 172 Sayı: 6
- Basım Tarihi: 2013
- Doi Numarası: 10.1007/s00431-012-1868-4
- Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.851-853
- Anahtar Kelimeler: Hypophosphatasia, Tooth, Odontohypophosphatasia, Infantile teeth loss, ALKALINE-PHOSPHATASE, PHENOTYPE, GENOTYPE
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır
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.