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Başlık: Clinical and genetic findings of Turkish hypophosphatasia cases
Yazarlar: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
0000-0003-0710-5422
0000-0003-4402-9609
Sağlam, Halil
Erdöl, Şahin
Dorum, Sevil
C-7392-2019
35612700100
54419947800
41661166200
Anahtar kelimeler: Endocrinology & metabolism
Pediatrics
Hypophosphatasia
Turkish children
Alkaline-phosphatase gene
Mutations
Yayın Tarihi: 24-Haz-2017
Yayıncı: Galenos Yayıncılık
Atıf: Sağlam, H. vd. (2017). ''Clinical and genetic findings of Turkish hypophosphatasia cases''. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 9(3), 229-236.
Özet: Objective: Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey. Methods: The study data were obtained retrospectively from the files of 10 healthy carriers and of 16 cases with HPP (12 children and 4 adults) who were followed in our center from 2012 to 2016. Results: The annual incidence of perinatal lethal hypophosphatasia (PLH) was estimated to be approximately 1 case per 435,517 live births,, which is the first report from Turkey. The clinical courses of the cases differed depending on the type of HPP. All of the seven cases (58.3% of all cases) with perinatal lethal form of HPP died. A need for respiratory support (p = 0.001), a history of pyridoxine-dependent seizures (p = 0.001), a low chest circumference measurement (p = 0.017), younger age at diagnosis (p = 0.029), a small head circumference at the time of presentation (p = 0.042), a low arm span to height ratio (p = 0.048), and a low serum alkaline phosphatase (ALP) level (p = 0.042) seemed to be predicting factors for mortality. The mean height standard deviation score of the patients and those of the healthy carriers did not differ significantly (p = 0.173). Different mutations were detected in nine of 14 cases (64.2%) in whom an ALPL gene mutation analysis could be performed, and five of these cases (35.7%) had novel mutations. The most common mutations were c746G>T (five alleles), c346G>A (three alleles), and c.140C>T (three alleles). In addition, the most frequently observed genotype in Turkish HPP cases was autosomal-dominant c.346G>A (p.A116T) mutations which were detected in three cases in two different families. Conclusion: Because of the respiratory problems, especially the lung hypoplasia, the clinical course is poor in cases with the perinatal lethal form of HPP. Some minor abnormalities such as mild short stature and osteopenia could be observed in asymptomatic heterozygote carriers. Laboratory findings were normal in these cases.
URI: https://doi.org/10.4274/jcrpe.4549
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596804/
1308-5735
http://hdl.handle.net/11452/30547
ISSN: 1308-5727
Koleksiyonlarda Görünür:Scopus
TrDizin
Web of Science

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