Next Article in Journal
Implications of Metabolic Bariatric Surgery on Reproductive Health
Previous Article in Journal
Recent Trends in the Management of Varicocele
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
JCM
Volume 14
Issue 15
10.3390/jcm14155447
jcm-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Case Report

Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series

by
Ioannis Petrakis
1,
Eleni Drosataki
1,
Dimitra Lygerou
1,
Andreas Antonakis
1,
Konstantina Kydonaki
1,
Marinos Mitrakos
1,
Christos Pleros
1,
Maria Sfakiotaki
2,
Paraskevi Xekouki
2 and
Kostas Stylianou
1,*
1
Department of Nephrology, University of Crete, Voutes, 70500 Heraklion, Greece
2
Department of Endocrinology, University of Crete, Voutes, 70500 Crete, Greece
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2025, 14(15), 5447; https://doi.org/10.3390/jcm14155447 (registering DOI)
Submission received: 15 June 2025 / Revised: 13 July 2025 / Accepted: 30 July 2025 / Published: 2 August 2025
(This article belongs to the Section Nephrology & Urology)
Versions Notes

Abstract

Background and Clinical Significance: Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant disorder caused by mutations in the MEN1 gene. Although primarily characterized by endocrine tumors, renal manifestations remain underreported. Case Presentation: We report a three-generation family carrying a pathogenic MEN1 mutation (c.1351-3_1359del) with a co-occurring Claudin 16 (CLDN16) variant (c.324+13C>G). Genetic testing included MLPA and whole-exome sequencing (WES), with bioinformatics analysis validating variant pathogenicity. All three patients exhibited primary hyperparathyroidism, hypercalcemia, hypercalciuria, early nephrocalcinosis, and renal hypomagnesemia. The CLDN16 variant, previously considered benign, co-segregated with hypomagnesemia and renal involvement, suggesting a potential modifying role. Conclusions: These findings support the need for comprehensive genetic screening in MEN1 patients with atypical renal presentations. Concomitant genetic variations can alter the principal phenotype.
Keywords: MEN1; nephrocalcinosis; hypomagnesemia MEN1; nephrocalcinosis; hypomagnesemia

Share and Cite

MDPI and ACS Style

Petrakis, I.; Drosataki, E.; Lygerou, D.; Antonakis, A.; Kydonaki, K.; Mitrakos, M.; Pleros, C.; Sfakiotaki, M.; Xekouki, P.; Stylianou, K. Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series. J. Clin. Med. 2025, 14, 5447. https://doi.org/10.3390/jcm14155447

AMA Style

Petrakis I, Drosataki E, Lygerou D, Antonakis A, Kydonaki K, Mitrakos M, Pleros C, Sfakiotaki M, Xekouki P, Stylianou K. Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series. Journal of Clinical Medicine. 2025; 14(15):5447. https://doi.org/10.3390/jcm14155447

Chicago/Turabian Style

Petrakis, Ioannis, Eleni Drosataki, Dimitra Lygerou, Andreas Antonakis, Konstantina Kydonaki, Marinos Mitrakos, Christos Pleros, Maria Sfakiotaki, Paraskevi Xekouki, and Kostas Stylianou. 2025. "Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series" Journal of Clinical Medicine 14, no. 15: 5447. https://doi.org/10.3390/jcm14155447

APA Style

Petrakis, I., Drosataki, E., Lygerou, D., Antonakis, A., Kydonaki, K., Mitrakos, M., Pleros, C., Sfakiotaki, M., Xekouki, P., & Stylianou, K. (2025). Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series. Journal of Clinical Medicine, 14(15), 5447. https://doi.org/10.3390/jcm14155447

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop