文献詳細
文献概要
今月の主題 カルシウム・リン・ビタミンDの再評価 各論 〈病態生理と検査〉
高カルシウム血症・低カルシウム血症
著者: 山内美香1 杉本利嗣1
所属機関: 1島根大学医学部内科学講座内科学第一
ページ範囲:P.979 - P.985
文献購入ページに移動Ca代謝異常症はよく経験する電解質異常をきたす疾患であるが,測定するまで気づかないことが多い.血清Ca,副甲状腺ホルモン(PTH),1α,25(OH)2D3値などの測定により鑑別診断は比較的容易である.PTHの値から原因が副甲状腺か否かを判断し,高Ca血症では原発性副甲状腺機能亢進症や悪性腫瘍に伴うもの,低Ca血症では頸部手術後や薬剤性など頻度の高い原因を念頭に置いて鑑別を行う.血清Ca値は厳密に調節されているため,軽度の異常でもCa代謝調節機構の異常を考えるべきである.
参考文献
1) Gao P, Scheibel S, D'Amour P, et al : Development of a novel immunoradiometric assay exclusively for biologically active whole parathyroid hormone 1-84 : implications for improvement of accurate assessment of parathyroid function. J Bone Miner Res 16:605-614,2001
2) Pollak MR, Brown EM, Chou YH, et al : Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297-1303,1993
3) Heath H 3rd, Jackson CE, Otterud B, et al : Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity. Am J Hum Genet 53:193-200,1993
4) Yamauchi M, Sugimoto T, Yamaguchi T, et al : Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. J Bone Miner Res 17:2174-2182,2002
5) Riccardi D, Brown EM : Physiology and pathophysiology of the calcium-sensing receptor in the kidney. Am J Physiol Renal Physiol 298:F485-499,2010
6) Pallais JC, Kemp EH, Bergwitz C, et al : Autoimmune hypocalciuric hypercalcemia unresponsive to glucocorticoid therapy in a patient with blocking autoantibodies against the calcium-sensing receptor. J Clin Endocrinol Metab 96:672-680,2011
7) Pallais JC, Kifor O, Chen YB, et al : Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor. N Engl J Med 351:362-369,2004
8) Fukumoto S, Namba N, Ozono K, et al : Causes and differential diagnosis of hypocalcemia--recommendation proposed by expert panel supported by ministry of health, labour and welfare, Japan. Endocr J 55:787-794,2008
9) Yagi H, Furutani Y, Hamada H, et al : Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366-1373,2003
10) Van Esch H, Groenen P, Nesbit MA, et al : GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406:419-422,2000
11) Parvari R, Hershkovitz E, Grossman N, et al : Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 32:448-452,2002
12) Ding C, Buckingham B, Levine MA : Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest 108:1215-1220,2001
13) Rude RK : Magnesium metabolism and deficiency. Endocrinol Metab Clin North Am 22:377-395,1993
14) Pollak MR, Brown EM, Estep HL, et al : Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 8:303-307,1994
15) Hu J, Mora S, Weber G, et al : Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor. J Bone Miner Res 19:578-586,2004
16) Kifor O, Moore FD Jr, Delaney M, et al : A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. J Clin Endocrinol Metab 88:60-72,2003
17) Aaltonen J, Björses P, Perheentupa J, et al : An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403,1997
18) Nagamine K, Peterson P, Scott HS, et al : Positional cloning of the APECED gene. Nat Genet 17:393-398,1997
19) Sato K, Nakajima K, Imamura H, et al : A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy : case report and review of the literature in Japan. Endocr J 49:625-633,2002
20) Bastepe M, Fröhlich LF, Hendy GN, et al : Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 112:1255-1263,2003
掲載誌情報