Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency
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Dekel Avital
und
Neta Loewenthal
Abstract
Background:
Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy.
Case presentation:
We present two adolescents diagnosed with CA12 deficiency who developed severe rhabdomyolysis as a result of physical activity in a hot climate.
Conclusions:
This presentation highlights a previously unreported but significant clinical complication of this disorder and emphasizes the persistent risk of excessive salt loss via sweat and a need for certain precautions, such as increased salt intake and avoidance of prolonged and/or strenuous exercise.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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©2018 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Editorial
- Congenital hypothyroidism
- Original Articles
- Does initial dosing of levothyroxine in infants with congenital hypothyroidism lead to frequent dose adjustments secondary to iatrogenic hyperthyroidism on follow-up?
- Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013–2015
- The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand
- Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey
- Risk of hypoglycemia in youth with type 2 diabetes on insulin
- Metabolic risk factors in adolescent girls with type 1 diabetes
- Definition of reference ranges for β-isomerized carboxy-terminal telopeptide collagen type I for children and adolescents
- Brown adipose tissue in young adults who were born preterm or small for gestational age
- Circulating soluble RAGE and cell surface RAGE on peripheral blood mononuclear cells in healthy children
- Predictors of bone maturation, growth rate and adult height in children with central precocious puberty treated with depot leuprolide acetate
- Trends in the use of puberty blockers among transgender children in the United States
- Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia
- Cardiac examination in children with Laron syndrome undergoing mecasermin therapy
- Five novel ALMS1 gene mutations in six patients with Alström syndrome
- Case Reports
- Cutaneous mucormycosis as a presenting feature of type 1 diabetes in a boy – case report and review of the literature
- Severe lactic acidosis in an extremely low birth weight infant due to thiamine deficiency
- Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency
