Smilde T J, Haverman J F, Schipper P, Hermus A R, van Liebergen F J, Jansen J L, Kloppenborg P W, Koolen M I
Department of Nephrology, Bosch Medicentrum, 's Hertogenbosch, The Netherlands.
J Rheumatol. 1994 Aug;21(8):1515-9.
Familial occurrence of Bartter's syndrome is well known, but the simultaneous occurrence of hypokalemia/hypomagnesemia and chondrocalcinosis in one family has not been described. We present the clinical, laboratory and radiological findings of a family, in which 7 members were affected by disease.
A total of 43 members of the family could be interviewed concerning their general health, past diseases and joint complaints. Serum potassium and magnesium were determined in all and radiographic studies were performed in those who had hypokalemia and hypomagnesemia or those with merely articular complaints. Urinary excretion of potassium, magnesium and calcium were determined in the affected persons.
Seven patients were found with hypokalemia and hypomagnesemia. Urinary potassium and magnesium excretion was inappropriately high when compared to the serum levels of these electrolytes. All patients had hypocalciuria and extensive chondrocalcinosis, mainly in the knees, elbows and shoulders. In one patient, most probably as a result of magnesium supplementation, a striking reduction of chondrocalcinosis was observed during a followup of 10 years.
A family with familial hypokalemia/hypomagnesemia and chondrocalcinosis is described. The reduction of chondrocalcinosis, after years of magnesium supplementation in one patient, suggests that hypomagnesemia is an important factor in the pathogenesis of chondrocalcinosis in these patients.
巴特综合征的家族性发病已广为人知，但一个家族中同时出现低钾血症/低镁血症和软骨钙质沉着症的情况尚未见报道。我们报告了一个家族的临床、实验室和影像学检查结果，该家族中有7名成员患病。
对该家族共43名成员进行了访谈，了解他们的总体健康状况、既往疾病和关节问题。测定了所有人的血清钾和镁，并对患有低钾血症和低镁血症或仅有关节问题的成员进行了影像学检查。测定了患病者尿中钾、镁和钙的排泄量。
发现7例患者存在低钾血症和低镁血症。与这些电解质的血清水平相比，尿钾和镁排泄量异常高。所有患者均有低钙尿症和广泛的软骨钙质沉着症，主要累及膝关节、肘关节和肩关节。在一名患者中，很可能是由于补充了镁，在10年的随访中观察到软骨钙质沉着症明显减轻。
描述了一个患有家族性低钾血症/低镁血症和软骨钙质沉着症的家族。一名患者在补充镁多年后软骨钙质沉着症减轻，提示低镁血症是这些患者软骨钙质沉着症发病机制中的一个重要因素。
