ノルモカルセミアによる偽低甲状腺症: ネパールからの珍しい症例報告
Jayaj Adhikari1, Subodh Adhikari2, Kushum Paudel3
1Department of Internal Medicine, Kathmandu University, Manipal College of Medical Sciences, Fulbari, Pokhara, Nepal.
Annals of medicine and surgery (2012)
|August 25, 2025
まとめ
副甲状腺症 (PHP) は,副甲状腺ホルモン (PTH) に対する耐性を引き起こす珍しい遺伝疾患である. 早期診断は極めて重要で,カルシウム濃度が正常である場合でも,特に皮下骨化がある場合でも重要です.
科学分野:
- 内分泌学
- 遺伝学
- 小児科
背景:
- 副甲状腺症 (PHP) は,甲状腺ホルモン (PTH) に対する組織抵抗性によって特徴づけられる珍しい遺伝疾患である.
- これはカルシウムとリン酸代謝の不均衡につながり,しばしば低カルシウム血症と高カルシウム血症を発症しますが,ノルモカルシウム血症も発生します.
- オルブライト遺伝性骨粗鬆症は,皮下骨化を特徴とする一般的な症状です.
研究 の 目的:
- 異常な表情と遅延した診断を伴う偽低甲状腺症 (PHP) の症例を提示する.
- 特定の臨床症状を持つ正常カルセミーの患者のPHPの認識の重要性を強調する.
主な方法:
- 1歳の少女の症例報告 皮膚の下の骨化
- 血清のリン酸,ビタミンD,カルシウム,PTHレベルを含む検査結果
- GNAS遺伝子の誤った変異を特定する遺伝子検査
主要な成果:
- 血清リン酸が高く,ビタミンDが低く,カルシウムは正常で,PTHが上昇した.
- 遺伝子検査でGNAS遺伝子の変異が確認され,オルブライト骨格不全症候群/進行性骨異形成症と診断されました.
- 症例は家族歴がなく 臨床診断が遅かった
結論:
- このケースは,皮下骨格化などの臨床指標が観察された場合でも,PHPの診断の必要性を強調しています.
- 早期に診断し,ビタミンDとカルシウム補給を含む治療は,PHP患者にとって不可欠です.
さらに関連する動画
07:12Establishment of a Simple and Effective Rat Model for Intraoperative Parathyroid Gland Imaging
Published on: August 17, 2022
3.8K
07:13Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
Published on: March 14, 2017
14.7K
関連する概念動画
00:59The Parathyroid Glands
2.5K
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
2.5K
01:21Skeleton and Calcium Homeostasis
4.8K
Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.
4.8K
01:17Hormones and Bone Tissue
2.9K
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
2.9K
00:51Synthesis and Functions of Calcitonin
2.4K
Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
2.4K
01:27Roles of Electrolytes: Calcium and Phosphate
491
Calcium and phosphate are essential electrolytes in the human body, with calcium being the most abundant mineral. Around 99% of the body's calcium is stored in the skeleton and teeth, forming a crystal lattice of mineral salts in combination with phosphates. Calcium plays crucial roles in various bodily functions such as blood clotting, neurotransmitter release, muscle tone maintenance, and nervous and muscle tissue excitability.
The calcium concentration in blood plasma is primarily...
The calcium concentration in blood plasma is primarily...
491
01:29Bone Disorders
3.9K
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
3.9K