P-24 Intriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci Ricci disease: Triad of rare diseases

Abstract

Abstract Introduction Type 1 diabetes mellitus (T1DM) is known to be associated with other autoimmune diseases. Nevertheless, medical conditions can coexist in unexpected ways. Such is the case of a rare and fascinating occurrence, where a patient was diagnosed with T1DM, Gitelman syndrome and Cacci Ricci disease. Clinical Case A 27-year-old male patient was suspected to have Gitelman syndrome at the age of 3 years in the presence of tetany crisis, abdominal pain and severe hypokalemia at 1,4 mmol/L. The diagnosis was confirmed by genetic testing highlighting a mutation in the SLC12A3 gene that codes for the sodium-chloride cotransporter. Abdominal pain disappeared after potassium and magnesium supplementation and the repercussion of Gitelman's syndrome was growth retardation. Diabetic ketoacidosis decompensation due to T1DM was developed. He had poor glycemic control although intensified insulin protocol. Cacci Ricci's disease was revealed by terminal hematuria. Abdomino-pelvic CT-scan objectified precalicial canalicular ectasia with bilateral nephrocalcinosis and about twenty non obstructing bilateral micro-nephrolithiasis. Serum calcium, phosphorus and PTH levels were in the normal range. Conclusion The coexistence of T1DM, Gitelman syndrome, and Cacci Ricci disease in the same patient remains a fascinating medical mystery. Abnormalities in certain ion channels and transporters could affect multiple systems leading to the manifestation of seemingly unrelated conditions in a single patient. As research continues, healthcare professionals hope to gain a better understanding of the underlying mechanisms and develop more effective treatment strategies for these rare and complex cases.