Journal Article Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1

Murakami, Takaaki  ,  Usui, Takeshi  ,  Nakamoto, Yuji  ,  Nakajima, Akio  ,  Mochida, Yuki  ,  Saito, Sumio  ,  Shibayama, Takahiro  ,  Yamazaki, Nobuhisa  ,  Hatoko, Tomonobu  ,  Kato, Tomoko  ,  Yonemitsu, Shin  ,  Muro, Seiji  ,  Oki, Shogo

56 ( 11 )  , pp.1375 - 1381 , 2017 , Japanese Society of Internal Medicine
A 53-year-old woman developed end-stage renal failure during a 15-year clinical course of primary hyperparathyroidism and was referred to our hospital for evaluation of suspected multiple endocrine neoplasia type 1 (MEN1). Genetic testing revealed a novel deletion mutation at codon 467 in exon 10 of the MEN1 gene. Systemic and selective arterial calcium injection (SACI) testing revealed hyperglucagonemia and hypergastrinemia with positive gastrin responses. A pathological examination revealed glucagonoma and a lymph node gastrinoma. The findings in this case indicate the importance of early diagnosis of MEN1 and demonstrate the utility of systemic and SACI testing in renal failure cases.

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