Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy

European Journal of Pediatrics

Volumn 173, Issue 2, 2014, Pages 239-242

  Ceravolo, Ferdinando ^a   Messina, Sonia ^b   Rodolico, Carmelo ^b   Strisciuglio, Pietro ^c   Concolino, Daniela ^d  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

Muscular dystrophy; Myoglobinuria; Neuromuscular disorders; Sarcoglycanopathy

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA SARCOGLYCAN; ANTIBIOTIC AGENT; ASPARTATE AMINOTRANSFERASE; BETA SARCOGLYCAN; CREATINE KINASE; DELTA SARCOGLYCAN; DYSTROPHIN; EPITOPE; FRUCTOSE BISPHOSPHATE ALDOLASE; GAMMA SARCOGLYCAN; HEMOGLOBIN; MYOGLOBIN; NUCLEOTIDE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALPHA SARCOGLYCANOPATHY; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BLOOD; CASE REPORT; CHILD; CHROMOSOME 17Q; CREATINE KINASE BLOOD LEVEL; DARK URINE; EXON; FAMILY HISTORY; FEVER; FIBER; FOLLOW UP; GAIT; GENE MUTATION; HISTOLOGY; HISTORY; HOMOZYGOSITY; HOSPITAL; HUMAN; IMMUNOHISTOCHEMISTRY; LABORATORY TEST; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE TISSUE; MYOGLOBINURIA; NEPHRITIS; NUCLEIC ACID BASE SUBSTITUTION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SARCOGLYCANOPATHY; SORE THROAT; URINALYSIS; URINE; URINE COLOR;

BIOPSY; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MYOGLOBINURIA; NEUROLOGIC EXAMINATION; SARCOGLYCANOPATHIES; SARCOGLYCANS; SARCOLEMMA;

EID: 84897595312     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-2151-z     Document Type: Article

References (11)

1. Barresi R, Confalonieri V, Lanfossi M et al (1997) Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan(adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta Neuropathol 94(1):28-35
2. Cagliani R, Comi GP, Tancredi L et al (2001) Primary beta- sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscul Disord 11(4):389-394
3. David WS (2000) Myoglobinuria. Neurol Clin 18(1):215-243
4. Diven SC, Travis LB (2000) A practical primary care approach to hematuria in children. Pediatr Nephrol 14(1):65-72
5. Ferreira AF, Carvalho MS, Resende MB, Wakamatsu A, Reed UC, Marie SK (2011) Phenotypic and immunohistochemical characterization of sarcoglycanopathies. Clinics (Sao Paulo) 66(10):1713-1719
6. Garrood P, Eagle M, Jardine PE, Bushby K, Straub V (2008) Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy. Neuromuscul Disord 18(1):71-73
7. Mongini T, Doriguzzi C, Bosone I, Chiadò-Piat L, Hoffman EP, Palmucci L (2002) Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. Neuropediatrics 33(2):109-111
8. Pena L, Kim K, Charrow J (2010) Episodic myoglobinuria in a primary gamma-sarcoglycanopathy. Neuromuscul Disord 20(5):337-339
9. Quinlivan R, Jungbluth H (2012) Myopathic causes of exercise intolerance with rhabdomyolysis. Dev Med Child Neurol 54(10):886-891
10. Sandona D, Betto R (2009) Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med 11:e28-e33
11. Straub V, Bushby K (2006) The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol 13(2):104-114