The Korean Journal of Medicine

  • 제80권6호
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  • Pages.718-722
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  • 2011
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  • 1738-9364(pISSN)
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  • 2289-0769(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
권호 표지

갑상선 기능저하증을 동반한 가족성 저칼슘뇨성 고칼슘혈증 1예

A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Hypothyroidism

  • 김은지 (한림대학교 의과대학 내과학교실) ;
  • 박소영 (한림대학교 의과대학 내과학교실) ;
  • 강준구 (한림대학교 의과대학 내과학교실) ;
  • 김철식 (한림대학교 의과대학 내과학교실) ;
  • 임성희 (한림대학교 의과대학 내과학교실) ;
  • 유형준 (한림대학교 의과대학 내과학교실) ;
  • 이성진 (한림대학교 의과대학 내과학교실)
  • Kim, Eun-Ji (Department of Internal Medicine, Hallym University College of Medicine) ;
  • Park, So-Young (Department of Internal Medicine, Hallym University College of Medicine) ;
  • Kang, Jun-Goo (Department of Internal Medicine, Hallym University College of Medicine) ;
  • Kim, Chul-Sik (Department of Internal Medicine, Hallym University College of Medicine) ;
  • Ihm, Sung-Hee (Department of Internal Medicine, Hallym University College of Medicine) ;
  • Yoo, Hyung-Joon (Department of Internal Medicine, Hallym University College of Medicine) ;
  • Lee, Seong-Jin (Department of Internal Medicine, Hallym University College of Medicine)
  • 발행 : 2011.06.01
⟨ 이전 논문 다음 논문 ⟩

초록

저자들은 우연히 발견된 유전적 소인을 보이는 경도의 무증상 고칼슘혈증, 저칼슘뇨증, 낮은 뇨중 칼슘-크레아티닌비, 정상이거나 약간 상승된 부갑상선호르몬 수치, 정상 알칼리성 인산분해효소 수치 소견들과 칼슘감지수용체 유전자의 21번째 아미노산 돌연변이(G21R)와 990번째 아미노산 단일염기다형성(R990G) 소견들이 확인된 자가면역성 갑상선염과 갑상선 기능저하증을 동반한 가족성 저칼슘뇨성 고칼슘혈증 증례를 국내외에서 처음으로 경험하였기에 문헌고찰과 함께 보고하는 바이다.

Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder characterized by mild asymptomatic hypercalcemia, hypocalciuria, a decreased urinary calcium-creatinine ratio, and normal or elevated parathyroid hormone levels. FHH is caused by an inactivating heterozygous mutation of the calcium-sensing receptor (CaSR) gene. A 62-year-old woman was referred to our center because of inadequate glucose control. Her son had hypercalcemia. Biochemical and endocrine studies showed hypercalcemia, hypocalciuria, a decreased urinary calcium-creatinine ratio, normal parathyroid hormone levels, normal PTH-related peptide levels, decreased free T4, increased TSH, and thyroid antibody positivity. Direct sequencing analyses revealed a heterozygous mutation of G21R at exon 2 and a single nucleotide polymorphism of R990G at exon 7 of the CaSR gene. Here, we report a case of FHH associated with a heterozygous mutation and a single nucleotide polymorphism of the CaSR gene, which coexisted with autoimmune thyroiditis and hypothyroidism. To our knowledge, this is the first such case reported.

키워드

참고문헌

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