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461 results
  • Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent. [Case Reports]
    Turk J Pediatr 2019; 61(3):444-448Atmış B, Kışla-Ekinci RM, … Karabay-Bayazıt A
  • Atmış B, Kışla-Ekinci RM, Melek E, Bişgin A, Yılmaz M, Anarat A, Karabay-Bayazıt A. Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent. Turk J Pediatr 2019; 61: 444-448. Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood,…
  • Bilateral hamstring origin calcification: rare presentation of Gitelman syndrome. [Journal Article]
    BMJ Case Rep 2020; 13(1)Mohan R, Dhotare SV, … Jakaraddi C
  • This case report is the first case to our knowledge of intratendinous or peritendinous calcification reported in Gitelman syndrome (GS) patients. GS represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg genes encoding the magnesium transporters in the distal convoluted tubule. Hence, the biochemic…
  • Systemic lupus erythematosus complicated by a Gitelman-like syndrome in an 8-year-old girl. [Journal Article]
    CEN Case Rep 2019Barathidasan GS, Krishnamurthy S, … Ganesh RN
  • An 8-year-old girl with recently diagnosed Systemic Lupus Erythematosus (SLE) (class 4 lupus nephritis with autoimmune hemolytic anemia) presented to the pediatric nephrology clinic with polyuria, tiredness and cramps; laboratory investigations revealed refractory hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperchloriuria. There was no history of diuretic administration. …
  • Inherited salt-losing tubulopathy: an old condition but a new category of tubulopathy. [Review]
    Pediatr Int 2019Nozu K, Yamamura T, … Iijima K
  • Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild classical type, which is usually found during inf…
  • Gitelman syndrome combined with growth hormone deficiency: Three cases report. [Case Reports]
    Medicine (Baltimore) 2019; 98(40):e17244Huang K, Dai YL, … Fu JF
  • CONCLUSIONS: We suggest that all GS patients should undergo genetic evaluation, especially regarding SLC12A3 gene mutation. GHD should be considered if these patients have short stature. rhGH therapy is useful for stimulating the patients' growth, and it may increase the serum magnesium level.
  • Gitelmans Syndrome- A Rare Cause of Recurrent Syncope. [Case Reports]
    J Assoc Physicians India 2019; 67(9):92-93Dastidar DG, Gupta A, … Tripathi B
  • Gitelman's syndrome, or congenital hypokalemic hypomagnesemic hypocalciuria with metabolic alkalosis, is widely described as a benign or milder variant of Barter's syndrome. It presents with variable clinical symptoms including tetanic episodes, muscle cramps, muscle paralysis, tingling numbness, perioral tingling sensation, salt craving and nocturia. This milder salt wasting syndrome can rarely …
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