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Article

A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.

BMC endocrine disorders - 22 Jun 2022

Sumida Akira, Iizuka Katsumi, Kato Takehiro, Liu Yanyan, Kubota Sodai, Kubota-Okamoto Saki, Sakurai Teruaki, Imaizumi Toshinori, Takahashi Yoshihiro, Mizuno Masami, Takao Ken, Hirota Takuo, Suwa Tetsuya, Horikawa Yukio, Yamamoto Mayumi, Seino Yusuke, Suzuki Atsushi, Yabe Daisuke

Abstract excerpt

BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant disease, which requires differential diagnosis from relatively common primary hyperparathyroidism (PHPT) in order to avoid unnecessary surgery. CASE PRESENTATION: A 16-year-old female had been followed by the department of psychosomatic medicine at our institution. Throughout the follow-up period, her plasma calcium levels were...

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Identifiers

PMID: 35733207
DOI: 10.1186/s12902-022-01077-5
PMCID: PMC9214973

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