Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent

Özet

Gitelman syndrome is a renal tubular salt-wasting disorder characterized byhypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria.Patients occasionally have symptoms in childhood, while diagnosis is oftenin adulthood. It is inherited by an autosomal recessive manner throughSLC12A3 gene mutations. Familial Mediterranean Fever (FMF) is the mostcommon autoinflammatory disorder, inherited by an autosomal recessivemanner and characterized by recurrent fever and pleuritis, peritonitis, andsynovitis. Mutations in MEditerrenean FeVer (MEFV) gene, coding pyrinprotein are responsible for FMF. Both MEFV and SCL12A3 genes were locatedon chromosome 16. A 9-year-old boy was admitted to our department becauseof recurrent abdominal pain, fever, joint pain and swelling since he was threeyears old. He was diagnosed as FMF and MEFV gene sequencing revealedhomozygous M694V (c.2080A>G) mutation. At the age of 14 years, polyuria,polydipsia, hypokalemia and mild hypomagnesemia had occurred. Patient wassuccessfully treated with oral supplementation of potassium and magnesiumalong with colchicine. Molecular genetic analysis including SCL12A3 genesequencing revealed homozygote IVS4-16G>A (c.602-16G>A) intronicsplicing site mutation.