A Case of Infantile Hypophosphatasia with Poor Body Weight Gain at One Month Old
| العنوان: | A Case of Infantile Hypophosphatasia with Poor Body Weight Gain at One Month Old |
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| المصدر: | 信州医学雑誌. 55(6):333-337 |
| بيانات النشر: | 信州医学会, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | tissue non-specific alkaline phosphatase gene, infantile hypophosphatasia, hypercalcemia, 乳児型低ホスファターゼ症, 複合ヘテロ接合体, compound heterozygote, 組織非特異的アルカリホスファターゼ遺伝子, 高カルシウム血症 |
| الوصف: | Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenonspecific alkaline phosphatase (TNSALP) activities. A one-month-old boy showed poor weight gain. His body weight and height were 3,202 g (-2.7SD) and 53 cm (-1.4SD), respectively, 7 weeks after birth. Serum calcium level was very high with a value of 17.6 mg/dl. Serum alkaline phosphatase level was 30 IU/l, while bone-type ALP was undetectable. Urine phosphoethanolamine, one of the substrates of ALP, was 3,056.8 nmol/mgCr. Urine Ca/Cr ratio was 1.4. Radiological findings showed osteopenia of cranial bones and irregular ossification of metaphyses of long bones. He was diagnosed with infantile type hypophosphatasia. He was treated with diuretics, a low Ca diet and calcitonin to decrease his serum calcium level. Appropriate body weight gain was not achieved even after the serum Ca level improved. He repeatedly suffered respiratory tract infection and died from pneumonia at 6-months.Analysis of TNSALP gene of the patient revealed compound heterozygous mutations of K207E and T1559del. Article 信州医学雑誌 55(6): 333-337(2007) |
| وصف الملف: | application/pdf |
| اللغة: | Japanese |
| تدمد: | 0037-3826 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=jairo_______::2bd3b526df8df47f7a16513a46340cf4Test https://soar-ir.repo.nii.ac.jp/records/4212Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.jairo.........2bd3b526df8df47f7a16513a46340cf4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00373826 |
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