低カルシウム尿の

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1. カルシウム感知性受容体障害：家族性低カルシウム尿性高カルシウム血症および常染色体優性低カルシウム血症 disorders of the calcium sensing receptor familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia
2. 原発性副甲状腺機能亢進症の診断および鑑別診断 diagnosis and differential diagnosis of primary hyperparathyroidism
3. 高カルシウム血症の原因 etiology of hypercalcemia
4. 高カルシウム血症への診断的アプローチ diagnostic approach to hypercalcemia
5. 原発性副甲状腺機能亢進症の発症機序および病因 pathogenesis and etiology of primary hyperparathyroidism

English Journal

Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.

Szalat A1, Shahar M, Shpitzen S, Nachmias B, Munter G, Gillis D, Durst R, Mevorach D, Leitersdorf E, Meiner V, Rosen H.
Endocrine.Endocrine.2015 Mar;48(2):444-53. doi: 10.1007/s12020-014-0370-3. Epub 2014 Aug 5.
The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor with a crucial role in calcium homeostasis. Mutations in the CaSR gene may lead to specific parathyroid disorders due to either gain-of-function (autosomal dominant hypercalciuric hypocalcemia; ADHH) or loss-of-function (familial hy
PMID 25091521

Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium.

Marx SJ1.
The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2015 Feb;100(2):L29-30. doi: 10.1210/jc.2014-4221.
PMID 25658165

Familial hypocalciuric hypercalcemia associated with crystal deposition disease.

Alix L1, Guggenbuhl P2.
Joint, bone, spine : revue du rhumatisme.Joint Bone Spine.2015 Jan;82(1):60-2. doi: 10.1016/j.jbspin.2014.08.007. Epub 2014 Oct 13.
Chondrocalcinosis is a common disease occasionally associated with hypercalcemia in case of primary hyperparathyroidism. Familial Hypocalciuric Hypercalcemia (FHH) is a rare and almost always asymptomatic condition, due to an autosomal dominant mutation of the calcium-sensing receptor gene. We repor
PMID 25444087

Japanese Journal

Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia

NANJO Kazuhiro,NAGAI So,SHIMIZU Chikara,TAJIMA Toshihiro,KONDO Takuma,MIYOSHI Hideaki,YOSHIOKA Narihito,KOIKE Takao
Endocrine journal 57(9), 787-792, 2010-09-01
NAID 10029586221

5．家族性低カルシウム尿性高カルシウム血症

駒場大峰,池田和人,深川雅史
日本内科学会雑誌 96(4), 681-687, 2007
… 血清カルシウム（Ca）濃度は，副甲状腺や腎尿細管のCa感受性受容体（calcium sensing receptor: CaSR）に感受されることにより，狭い範囲にコントロールされている．家族性低Ca尿性高Ca血症（familial hypocalciuric hypercalcemia: FHH）は，このCaSRの不活性型変異によって惹起される疾患で，軽度の高Ca血症と比較的低Ca尿症を特徴とする．臨床的には，不要な副甲状腺手術を避けるため，原発性副甲状腺機能亢進症との鑑別が重要となる …
NAID 130002128394

臨床的に家族性低カルシウム尿症高カルシウム血症 (familiar hypocalciuric hypercalcemia,FHH) と考えられた症例の臨床病理像

山下裕人,野口志郎,山下弘幸,内野眞也,渡辺紳,村上司,津野亜紀子,荒木正登,首藤茂,丸田淳子,岩見奈緒,橋本裕信,菅啓子,原田浩子,馬場英敏,足立光男
ホルモンと臨牀 51, 119-126, 2003-08-29
NAID 50000292065

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