FAMILIAL HYPOKALAEMIA AND HYPOMAGNESAEMIA A Further Family

Abstract

A family of four siblings is reported. While both parents and one sib appear entirely normal, three other sibs give biochemical evidence of impaired potassium conservation, hypomagnesaemia and decreased urinary calcium output. Affected sibs may be symptom free and of either sex. The dominant clinical abnormality, when it does occur, is tetany and may be precipitated by non-specific illness. Sustained management of the hypokalaemia seems desirable.

Familial Hypokalemia-Hypomagnesemia or Gitelman’s Syndrome: A Further Case

“…Our patient did not suffer from 'ec zema', dermatitis or other cutaneous eruption. Many case reports of Gitelman's syndrome free of cutaneous lesions have been published [2][3][4][5]8] and we do not believe that dermatitis is a distinctive feature of this syndrome. The main biochemical feature is hypomagnesemia.…”

“…Since then the syndrome of familial hypokalemia-hypomagnesemia has been reported in at least 20 patients [2][3][4][5][6][7], This condition is frequently mistaken for Bartter's syndrome [8], and some patients considered as examples of hypomagnesemia or hypocai ciuria in Bartter's syndrome really have Gitelman's syn drome [3,9]. The inherited defect is probably situated at the level of the distal convoluted tubule [5] and the incidence in both sexes and the lack of significant abnormalities in the parents point to an autosomal recessive type of inheritance.…”

Chronic hypomagnesemia and hypokalemia due to renal wasting in siblings

“…A 10 year old boy, who was the younger brother of Patient The results of investigations included the following: serum sodium 139 mEqlL, potassium 2.9 mEq/L, chloride 95 mEq/L, magnesium 1.3 mg/dL, calcium 9.6 mg/dL, phosphorus 4.2 mg/dL, bicarbonate 28. 9 mmoYL.…”