家族性副甲状腺機能亢進症
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- 1. 原発性副甲状腺機能亢進症：診断、鑑別診断、および評価primary hyperparathyroidism diagnosis differential diagnosis and evaluation [show details]
… in genes such as MEN1 or HRPT2 for sporadic and familial tumors. Although the most common clinical presentation of primary hyperparathyroidism (PHPT) is asymptomatic hypercalcemia with an elevated or …
- 2. 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 [show details]
…most common cause of familial hyperparathyroidism is as part of the multiple endocrine neoplasia (MEN) type 1 syndrome . It can also occur as familial primary hyperparathyroidism not associated with any …
- 3. 多発性内分泌腫瘍2型の治療のアプローチapproach to therapy in multiple endocrine neoplasia type 2 [show details]
…Affected patients have germline mutations in the RET proto-oncogene. MEN2A is a heritable predisposition to medullary thyroid cancer (MTC), pheochromocytoma, and primary parathyroid hyperplasia. There are four …
- 4. 原発性副甲状腺機能亢進症の副甲状腺診査parathyroid exploration for primary hyperparathyroidism [show details]
…the definitive therapy for PHPT and is indicated for all patients with symptomatic PHPT, patients with familial PHPT (multiple endocrine neoplasia [MEN] type 1 and 2A, or familial hyperparathyroidism), and …
- 5. 原発性副甲状腺機能亢進症患者における副甲状腺手術における術前局在診断preoperative localization for parathyroid surgery in patients with primary hyperparathyroidism [show details]
… who have a biochemically confirmed diagnosis of primary hyperparathyroidism, and in whom other pathologies have been appropriately ruled out (eg, familial benign hypercalcemic hypocalciuria). For patients …
English Journal
- Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.
- Riccardi A, Aspir T, Shen L, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Parham K, Carling T, Costa-Guda J, Arnold A.
- The Journal of clinical endocrinology and metabolism. 2019 Jun;104(6)1948-1952.
- Sporadic, solitary parathyroid adenoma is the most common cause of primary hyperparathyroidism (PHPT). Apart from germline variants in certain cyclin-dependent kinase inhibitor genes and occasionally in MEN1, CASR, or CDC73, little is known about possible genetic variants in the population that may
- PMID 30624640
- Management of primary hyperparathyroidism in pregnancy: a case series.
- McCarthy A, Howarth S, Khoo S, Hale J, Oddy S, Halsall D, Fish B, Mariathasan S, Andrews K, Oyibo SO, Samyraju M, Gajewska-Knapik K, Park SM, Wood D, Moran C, Casey RT.
- Endocrinology, diabetes & metabolism case reports. 2019 May;2019().
- Primary hyperparathyroidism (PHPT) is characterised by the overproduction of parathyroid hormone (PTH) due to parathyroid hyperplasia, adenoma or carcinoma and results in hypercalcaemia and a raised or inappropriately normal PTH. Symptoms of hypercalcaemia occur in 20% of patients and include fatigu
- PMID 31096181
- Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
- Bhangu JS, Selberherr A, Brammen L, Scheuba C, Riss P.
- Head & neck. 2019 May;41(5)1372-1378.
- Twenty-four-hour renal calcium-excretion (CE) and calcium/creatinine-clearance-ratio (CCCR), respectively, are widely used to rule out familial hypocalciuric hypercalcemia (FHH) in patients with suspected primary hyperparathyroidism before surgery. The aim was to evaluate the practicability of CE co
- PMID 30554440
Japanese Journal
- Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing
- Koikawa Kenji,Okada Yosuke,Mori Hiroko,Kawaguchi Mayuko,Uchino Shinya,Tanaka Yoshiya
- Internal Medicine 57(6), 841-844, 2018
- … <p>We herein report the case of a young woman who was diagnosed with primary hyperparathyroidism and in whom genetic testing confirmed a diagnosis of hyperparathyroidism-jaw tumor syndrome. … Familial hyperparathyroidism was suspected based on the patient's young age at the onset of the disease. … gene and confirmed the diagnosis of hyperparathyroidism-jaw tumor syndrome. …
- NAID 130006507394
- 内野 眞也
- 日本臨床細胞学会雑誌 56(6), 265-270, 2017
- <p>多発性内分泌腫瘍症 2 型は, 遺伝的に甲状腺髄様癌・褐色細胞腫・原発性副甲状腺機能亢進症を発症する常染色体優性遺伝性疾患であり, 原因遺伝子は<i>RET</i>遺伝子である. わが国では<i>RET</i>遺伝学的検査はすでに保険適用である. 乳頭癌や濾胞癌を発生する症候性の遺伝性疾患には, Cowden 症候群, 家族性大腸腺 …
- NAID 130006315366
- Potential utility of cinacalcet as a treatment for <i>CDC73</i>-related primary hyperparathyroidism: a case report
- Sato Takeshi,Adachi Masanori,Muroya Koji,Hanakawa Junko,Yamashita Sumimasa,Nozawa Kumiko,Masudo Katsuhiko,Yamakawa Tadashi,Asakura Yumi,Hasegawa Tomonobu
- Ｃｌｉｎｉｃａｌ Ｐｅｄｉａｔｒｉｃ Ｅｎｄｏｃｒｉｎｏｌｏｇｙ 25(3), 91-98, 2016
- … <p>We report a Japanese pedigree with familial primary hyperparathyroidism due to a <i>CDC73</i> … To our knowledge, this is the first report of cinacalcet as a treatment for <i>CDC73</i>-related primary hyperparathyroidism. …
- NAID 130005165830
Related Links
- Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called ...
- Primary hyperparathyroidism is a common endocrine disorder caused by overactivation of parathyroid glands resulting in excessive release of parathyroid hormone. The resultant hypercalcemia leads to a myriad of ...
- ADAMS PH, CHALMERS T, PETERS N, RACK JH, TRUSCOTT BM. PRIMARY CHIEF CELL HYPERPLASIA OF THE PARATHYROID GLANDS. Ann Intern Med. 1965 Sep; 63:454–467. [] BALLARD HS, FAME B, HARTSOCK RJ.
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- 英
- familial primary hyperparathyroidism
- 同
- 家族性上皮小体機能亢進症
- 関
- 副甲状腺機能亢進症
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- 関
- family、family member、household、kindred
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原発性副甲状腺機能亢進症 PHP
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副甲状腺機能亢進症