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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498202/
https://www.ncbi.nlm.nih.gov/pubmed/28566601
http://dx.doi.org/10.2169/internalmedicine.56.7230
Descripción
Sumario: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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