Related Experiment Videos
Familial hypokalemia/hypomagnesemia and chondrocalcinosis
T J Smilde1, J F Haverman, P Schipper
1Department of Nephrology, Bosch Medicentrum, 's Hertogenbosch, The Netherlands.
Insights
This study describes a rare family with hypokalemia, hypomagnesemia, and chondrocalcinosis. Magnesium supplementation may reduce chondrocalcinosis, suggesting its role in the condition.
Area of Science:
- Nephrology and Genetics
- Biochemistry and Mineral Metabolism
Background:
- Familial Bartter's syndrome is recognized, but co-occurrence of hypokalemia, hypomagnesemia, and chondrocalcinosis within a single family is unprecedented.
- This study investigates a family exhibiting these combined conditions.
Observation:
- Seven family members presented with hypokalemia and hypomagnesemia.
- All affected individuals exhibited hypocalciuria and widespread chondrocalcinosis, particularly in major joints.
- Urinary electrolyte excretion was disproportionately high relative to serum levels.
Findings:
- The family displayed a unique combination of hypokalemia, hypomagnesemia, and chondrocalcinosis.
- High urinary potassium and magnesium excretion, alongside hypocalciuria, were consistent findings.
- One patient showed significant chondrocalcinosis reduction over 10 years with magnesium supplementation.
Implications:
- Hypomagnesemia is implicated as a key factor in the development of chondrocalcinosis in this familial condition.
- This finding highlights the potential therapeutic role of magnesium in managing chondrocalcinosis.
- Further research into the genetic and metabolic underpinnings of this syndrome is warranted.
Objective:
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.
Methods:
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.
Results:
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.
Conclusion:
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.