Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia
| Autor: | Akie Nakamura, Yasusada Kawada, Kazuyasu Kubo, Koichi Kusuhara, Masahiro Ishii, Yukiyo Yamamoto, Rinko Kawagoe, Maki Fukami, Shinichiro Sano, Reiko Saito, Motohide Goto, Masayo Kagami, Shunsuke Araki |
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| Rok vydání: | 2016 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine medicine.medical_specialty medicine.diagnostic_test business.industry Tetany Pseudohypoparathyroidism Type 1b 030209 endocrinology & metabolism Dermatology Asymptomatic Preoperative examination Albright hereditary osteodystrophy 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Male patient Methylation analysis Pediatrics Perinatology and Child Health Medicine natural sciences medicine.symptom business Genetic testing |
| Zdroj: | Pediatrics International. 58:1229-1231 |
| ISSN: | 1328-8067 |
| DOI: | 10.1111/ped.13096 |
| Popis: | Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. Previous studies reported a few cases of autosomal dominant pattern PHP-1b identified on familial analysis with asymptomatic hypocalcemia. Herein we report the case of a 6-year-old male patient with sporadic PHP-1b incidentally detected on preoperative examination. He had neither characteristic findings of Albright hereditary osteodystrophy nor evidence of tetany. Sporadic PHP-1b was diagnosed on the basis of clinical observation and laboratory examination. In addition, genetic testing using methylation-specific multiplex ligation-dependent probe amplification indicated broad methylation abnormalities and confirmed the sporadic form of PHP-1b. Sporadic PHP-1b might often be overlooked when diagnosis is done simply on definitive clinical features. To avoid this, DNA sequencing and methylation analysis should be performed even in the absence of definitive clinical features. |
| Databáze: | OpenAIRE |
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