Paediatria Croatica, Vol. 57 No. 2, 2013.
Pregledni rad
HEREDITARY AND ACQUIRED DISORDERS OF NEUROMUSCULAR JUNCTION IN CHILDREN – NOVEL APPROACH IN DIAGNOSIS
Nina Barišić
; Klinika za pedijatriju, Klinički bolnički centar Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb
Vanja Ivanović
; Klinika za pedijatriju, Klinički bolnički centar Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb
Branka Bunoza
; Klinika za pedijatriju, Klinički bolnički centar Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb
Antonija Jakovčević
; Zavod za patologiju i citologiju, Klinički bolnički centar Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb
Jasna Slaviček
; Klinika za pedijatriju, Klinički bolnički centar Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb
Ante Sasso
; Zavod za dječju neurologiju, Klinički bolnički centar Rijeka, Istarska 43, Rijeka
Jadranka Sertić
; Zavod za kliničku dijagnostiku, Klinički bolnički centar Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb
Milivoj Novak
; Klinika za pedijatriju, Klinički bolnički centar Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb
Sažetak
Neuromuscular junction is the site of communication between motor nerve axons and skeletal muscle fibers. Hereditary and acquired disorders affect presynaptic, intrasynaptic or postsynaptic part of neuromuscular junction causing muscle fatigue and weakness. Genetic defects cause abnormal neuromuscular transmission. Autosomal dominant disorders present as slow channel disease; autosomal recessive are more common and characterized by severe clinical course, as in presynaptic defect, fast channel disorders and rapsyn deficiency. Acquired neuromuscular diseases are myasthenia gravis, Lambert-Eaton syndrome, botulism, transient neonatal myasthenia gravis and fetal acetylcholine receptor inactivation syndrome. Juvenile myasthenia gravis is usually associated with anti-acetylcholine receptor antibodies, while thymoma in children associated with juvenile myasthenia gravis is extremely rare. The aim is to present the variability of clinical presentation in neuromuscular junction disorders, the complexity of diagnostic approach, especially molecular-genetic diagnosis, and novel therapeutic options. Improvement in the understanding of the molecular-genetic etiology and pathogenesis of congenital myasthenic syndrome is significant not only for diagnosis, but also for selection of the most appropriate therapeutic approach. Clinical presentation of myasthenia gravis in children is very variable, therapy is effective, but additional controlled clinical trials and clinical and diagnostic guidelines are still required.
Ključne riječi
neuromuscular junction diseases; myasthenia gravis; myasthenic syndromes, congenital
Hrčak ID:
105042
URI
Datum izdavanja:
25.6.2013.
Posjeta: 1.758 *