Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review

Abstract

Hypokalemia is a recognized cause of rhabdomyolysis but very few reports document its association with inborn renal tubular disorders. We report our experience with hypokalemic rhabdomyolysis in 5 pediatric patients affected by inborn renal tubular disorders and the results of a careful review of the literature disclosing 9 further cases for a total of 14 patients (8 male and 6 female subjects, aged between 1.6 and 46, median 16 years). The inborn renal tubular disorders underlying rhabdomyolysis were classic distal renal tubular acidosis (n = 7), Gitelman syndrome (n = 5), classic Bartter syndrome (n = 1), and antenatal Bartter syndrome (n = 1). In 8 patients rhabdomyolysis followed an acute intestinal disease, an upper respiratory illness or the discontinuation of regular medication. Five patients experienced two or more episodes of rhabdomyolysis. In 10 patients the underlying renal tubular disorder was recognized concurrently with the episode of rhabdomyolysis or some weeks later. In conclusion some congenital renal tubular disorders predispose to hypokalemic rhabdomyolysis. Prevention of discontinuation of regular medication and electrolyte repair in the context of acute intercurrent illnesses might avoid the development of hypokalemic rhabdomyolysis.

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

“…41 Hypokalemic rhabdomyolysis has been reported in several GS patients. 42 Ultrasound or X-ray examination should be performed in case of specific complaints that are suggestive of chondrocalcinosis. Ophthalmology examination is indicated when sclerochoroidal calcifications are suspected.…”

Diagnostic evaluation of rhabdomyolysis

“…Cases of rhabdomyolysis have also been attributed to electrolyte disturbances (primarily hypokalemia and hyponatremia) in the setting of laxative and diuretic misuse/abuse 71–73 . Rhabdomyolysis can be the presenting event in cases of inherited or acquired renal tubular dysfunction with profound hypokalemia, or it can be triggered by illness or discontinuation of medical treatment 74, 75 . These causes can be screened for with serum and urine electrolyte panels and studies of endocrine function.…”

Two cases of hypokalaemic rhabdomyolysis: same but different

“…Fatigue, muscle cramps and muscular weakness are typical complaints; the latter usually begins in the lower extremities and subsequently progresses to the trunk and arms, a presentation which can mimic other acute neurological conditions such as Guillain-Barre syndrome. Of note, in the context of rhabdomyolysis, pre-existing hypokalaemia may be overlooked by the time of presentation because of potassium leakage from intracellular stores due to muscle breakdown 9. Hypokalaemia is not a diagnosis but the result of many different disorders and its underlying cause must be sought for diagnostic as well as for therapeutic reasons, as illustrated by the cases presented 10…”