Severe syncope and sudden death in children with inborn salt-losing hypokalaemic tubulopathies

Cortesi, C; Bettinelli, Alberto; Emma, Francesco; Fischbach, Michel; Bertolani, P; Bianchetti, Mario G.

doi:10.1093/ndt/gfh893

Cited by 13 publications

(12 citation statements)

References 10 publications

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“…They also found that his ECG showed a prolonged QT interval as found in our patient. Similarly, severe syncope of a child with GS who had severe ventricular arrhythmia has been reported by Cortesi et al [17]. Thus detailed investigation into ventricular arrhythmia, particularly in patients with the prolonged QT interval, is warranted.…”

Section: Discussionsupporting

confidence: 52%

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

et al. 2006

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Abstract. An 80-year-old man was referred to our department for evaluation of repetitive loss of consciousness and faintness with hypokalemia. He had relatively low blood pressure, hypomagnesemia, hypocalciuria and chondrocalcinosis in the knee, clinically suggesting Gitelman's syndrome. A renal clearance study could not be carried out due to the patient's age and complications of the heart. Sequence analysis of the gene of thiazide-sensitive Na-Cl cotransporter (TSC) showed a heterozygous missense mutation from C to T at 1712 base pairs from the translation start site, with resultant changes in codon 569 from alanine to valine (A569V). Treatment with oral administration of potassium chloride improved all the symptoms. Although Gitelman's syndrome has been considered to be autosomal recessive, cases of only heterozygous mutation detected have recently been reported. Therefore, the mutation found in this patient may be responsible for Gitelman's syndrome.

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Section: Discussionsupporting

confidence: 52%

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

et al. 2006

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“…In Gitelman syndrome and in the various forms of Bartter syndrome intercurrent illnesses or discontinuation of regular medication sometimes exacerbate hypokalemia and therefore may cause severe cardiac arrhythmias [23]. The present observations indicate that congenital renal tubular disorders predispose to hypokalemic rhabdomyolysis as well.…”

Section: Discussionmentioning

confidence: 57%

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

et al. 2009

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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.

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“…Malignant arrhythmias and acute dehydration are the main reasons. However, at the last examination, when the baby was aged 6 months, electrolyte levels were normal (Table 1) and no intercurrent severe acute dehydration was reported [17].…”

Section: Discussionmentioning

confidence: 96%

Deletion of exons 2–4 in the BSND gene causes severe antenatal Bartter syndrome

Bircan

Harputluoglu

Jeck³

2009

Pediatr Nephrol

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BSND gene mutations usually cause severe forms of antenatal Bartter syndrome and sensorineural deafness (SND). Chronic renal failure and transient hypercalciuria are reported as controversial symptoms of this syndrome. All twelve reported BSND mutations cause SND, whereas only two of the mutations give rise to normal glomerular filtration rate (GFR) and two other mutations cause hypercalciuria. The case we report here, where the patient presented with severe clinical symptoms and deletion on exons 2-4 of the BSND gene, has not been reported previously. Decreased GFR, along with hypercalciuria and difficulties in managing fluid and electrolyte requirements, are the reasons why this patient was brought to attention.

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Severe syncope and sudden death in children with inborn salt-losing hypokalaemic tubulopathies

Abstract: In conclusion, severe chronic or acute hypokalaemia is hazardous in inborn salt-losing tubulopathies.

Cited by 13 publications

References 10 publications

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

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

Deletion of exons 2–4 in the BSND gene causes severe antenatal Bartter syndrome

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