Familial hypokalemia/hypomagnesemia and chondrocalcinosis.

J Rheumatol

Department of Nephrology, Bosch Medicentrum, 's Hertogenbosch, The Netherlands.

Published: August 1994

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.

Download full-text PDF

Source

Publication Analysis

Top Keywords

hypokalemia/hypomagnesemia chondrocalcinosis
12
potassium magnesium
12
familial hypokalemia/hypomagnesemia
8
hypokalemia hypomagnesemia
8
magnesium supplementation
8
reduction chondrocalcinosis
8
chondrocalcinosis
7
magnesium
5
chondrocalcinosis objective
4
objective familial
4

Similar Publications

Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular, ophthalmological or musculoskeletal. We describe a 70 year-old patient affected by recurrent arthralgias, hypoesthesia and hyposthenia in all 4 limbs and severe hypokalemia, complicated by atrial flutter.

View Article and Find Full Text PDF

Bilateral hamstring origin calcification: rare presentation of Gitelman syndrome.

BMJ Case Rep

January 2020

Trauma and Orthopaedics, St Helens and Knowsley NHS Trust, Prescot, Merseyside, UK.

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 genes encoding the thiazide-sensitive sodium chloride cotransporter and the genes encoding the magnesium transporters in the distal convoluted tubule. Hence, the biochemical findings resemble those with thiazide diuretics such as hypokalaemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis and low normal blood pressure.

View Article and Find Full Text PDF

Gitelman's syndrome (GS) is a rare disease with autosomal recessive trait, characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperkinemic hyperaldosteronism. While muscle weakness, tetany, stomachache, nausea and fever are very common, it could sometimes be completely asymptomatic as is the case in our patient. It is generally benign, but some severe complications like growth retardation and, though rare, paralysis and cardiac arrest could also be seen.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!