| H01371 | |
| H番号 | H01371 |
| 名称 | 特発性乳児高カルシウム血症 |
| 概要 | Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause this disease. The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (HCINF1) CYP24A1 [HSA:1591] [KO:K07436] (HCINF2) SLC34A1 [HSA:6569] [KO:K14683] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C64.5 ICD-10: E83.5 MeSH: C562581 OMIM: 143880 616963 |
| 文献 | PMID:21675912 (CYP24A1) 著者 Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M タイトル Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 雑誌 N Engl J Med 365:410-21 (2011) DOI:10.1056/NEJMoa1103864 PMID:26047794 (SLC34A1) 著者 Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M タイトル Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. 雑誌 J Am Soc Nephrol 27:604-14 (2016) DOI:10.1681/ASN.2014101025 |