Literature DB >> 2748260

Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmityl transferase deficiency.

K J Kelly1, J S Garland, T T Tang, A L Shug, M J Chusid.   

Abstract

Severe rhabdomyolysis following an influenza B infection developed in a previously well 13-year-old girl. There was no history of trauma. Her course was complicated by episodes of severe hyperkalemia, hypocalcemia, hyperphosphatemia, and myoglobinuria. Renal failure, hypertension, and life-threatening arrhythmias developed; she died. Muscle biopsy revealed that this girl had carnitine palmityl transferase deficiency. An asymptomatic sister was demonstrated to have the same disorder. Although carnitine palmityl transferase deficiency is usually associated with mild bouts of rhabdomyolysis that become apparent only in adulthood, severe forms of this disorder may be seen in children. Life-threatening rhabdomyolysis and myoglobinuria may follow any infection associated with decreased intake. If carnitine palmityl transferase deficiency is diagnosed in a proband, other siblings should be evaluated so that proper preventative measures can be undertaken to help prevent the development of symptoms in susceptible individuals who have not been recognized to have the disease.

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Year:  1989        PMID: 2748260

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  5 in total

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Review 2.  [Rhabdomyolysis and myoglobinuria].

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Journal:  Nervenarzt       Date:  2003-05-14       Impact factor: 1.214

3.  Influenza-associated myositis: a single-centre, 5-year retrospective study.

Authors:  James Kerr; Kristine Macartney; Philip N Britton
Journal:  Eur J Pediatr       Date:  2020-10-23       Impact factor: 3.183

4.  Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

Authors:  F Demaugre; J P Bonnefont; M Colonna; C Cepanec; J P Leroux; J M Saudubray
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

5.  Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.

Authors:  I Handig; E Dams; F Taroni; S Van Laere; T de Barsy; J Willems P
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

  5 in total

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