Challenging differential diagnosis of hypergastremia and hyperglucagonemia with chronic renal failure: Report of a case with multiple endocrine neoplasia type 1

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Abstract

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 hypergas-trinemia 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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Murakami, T., Usui, T., Nakamoto, Y., Nakajima, A., Mochida, Y., Saito, S., … Oki, S. (2017). Challenging differential diagnosis of hypergastremia and hyperglucagonemia with chronic renal failure: Report of a case with multiple endocrine neoplasia type 1. Internal Medicine, 56(11), 1375–1381. https://doi.org/10.2169/internalmedicine.56.7230

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