Intriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease: Triad of rare diseases: A case report.

Autor:	Ben Bnina M; Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia.; Endocrinology-Diabetology Department, Farhat-Hached University Hospital, Sousse, Tunisia., Elfekih H; Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia.; Endocrinology-Diabetology Department, Farhat-Hached University Hospital, Sousse, Tunisia., Ghorchene A; Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia.; Endocrinology-Diabetology Department, Farhat-Hached University Hospital, Sousse, Tunisia., Ben Abdessalem F; Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia.; Endocrinology-Diabetology Department, Farhat-Hached University Hospital, Sousse, Tunisia., Hasni Y; Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia.; Endocrinology-Diabetology Department, Farhat-Hached University Hospital, Sousse, Tunisia., Chadli Chaieb M; Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia.; Endocrinology-Diabetology Department, Farhat-Hached University Hospital, Sousse, Tunisia.
Jazyk:	angličtina
Zdroj:	SAGE open medical case reports [SAGE Open Med Case Rep] 2024 Jun 14; Vol. 12, pp. 2050313X241261019. Date of Electronic Publication: 2024 Jun 14 (Print Publication: 2024).
DOI:	10.1177/2050313X241261019
Abstrakt:	We report the case of a patient who exhibits a concurrent diagnosis of type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease. A 27-year-old male patient was diagnosed with Gitelman syndrome at the age of 3 years. Fourteen years later, he developed an autoantibody-negative type 1 diabetes mellitus. Cacci-Ricci's disease was revealed by terminal hematuria and considered in view of the appearance found on the computed tomography (CT) scan. The finger-prick blood glucose level was 6 g/dl with no acetonuria. Creatinine clearance was 60 ml/min. Thyroid function tests were normal. Calcium, phosphorus and parathormone (PTH) levels were normal. Discussion: Gitelman syndrome is a rare disorder. The association between Gitelman syndrome and type 1 diabetes mellitus has been reported in the literature in two patients. Authors have investigated the association between Gitelman syndrome and type 2 diabetes mellitus. Several pathophysiological explanations have been put forward. Cacci-ricci disease is a rare, benign congenital anomaly. No association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease has been reported in the literature. To our knowledge, this is the first case described in the literature. Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. (© The Author(s) 2024.)
Databáze:	MEDLINE
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