A rare case of monogenic diabetes mellitus

مقدمه/ بیان مساله : IPEX syndrome (immune dysregulation, polyendocrinopathy, enteropathy X-linked) a rare case of monogenic diabetes mellitus caused by mutation in the FOXP۳ gene, present with hyperglycemia , diarrhea and eczema. This abstract explains how a patient with this syndrome presents.معرفی بیمار : The patient is the first child of a consanguineous parent who presented with polyuria, polydipsia and hyperglycemia at ۶ months. Insulin therapy has started at that time to control hyperglycemia. One month later he was admitted to hospital due to fever, hypoglycemia and hepatosplenomegaly. Diagnostic tests revealed the CMV infection as a cause of fever and organomegaly.After one month, he was admitted again due to hypoglycemia and sepsis. Other accompanying symptoms were eczema, abdominal distention and edema. Further evaluations had shown hypoalbuminemia and proteinuria. His mother has reported the death of the patient's cousin who was suffering from diabetes and has been lived in Mashhad. The medical records of him were sent to us, that shows a mutation in FOXP۳ gene. So we requested genetic counsultation to confirm the diagnosis. Hemizygous variant was difined as c.۸۱۶+۷G>C in intron۸ of FOXP۳ gene that was consistant with diagnosis of IPEX syndrome.Because of massive proteinuria, prednisolon and then cyclosporine therapy was started. Abdominal distention, diarrhea and failure to thrive (FTT) was permanent , so gastroesophageal-endoscopy was done to take the biopsy. Pathology result showed celiac disease.Now, he is a ۳.۵ year-old boy with sever FTT, permanent proteinuria and hematuria (nephropathy), enteropathy, poor control diabetes and recurrent seizure despite appropriate treatment and close observation. The prognosis of the disease is poor.

کلیدواژه ها:

IPEX syndrome-Diabetes-Enteropathy-Nephropathy