RESUMO
Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. This review focuses on the disorders involved in the biosynthesis of phospholipids. Phospholipids are involved in uncountable cellular processes, e.g. as structural components of membranes, by taking part in vesicle and mitochondrial fusion and fission or signal transduction. Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB). Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE).
Assuntos
Cardiomiopatias/genética , Catarata/genética , Erros Inatos do Metabolismo/diagnóstico , Fosfolipídeos/biossíntese , Fosfolipídeos/metabolismo , Anoftalmia/genética , Síndrome de Barth/genética , Ataxia Cerebelar/genética , Saúde da Família , Hormônio Liberador de Gonadotropina/deficiência , Hormônio Liberador de Gonadotropina/genética , Síndrome Hemolítico-Urêmica/genética , Humanos , Hipogonadismo/genética , Erros Inatos do Metabolismo/genética , Microftalmia/genética , Distrofias Musculares/genética , Mutação , Osteocondrodisplasias/genética , Paraplegia Espástica Hereditária/genéticaRESUMO
UNLABELLED: To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between January 1995 and September 2002, 23 patients (11 males, 12 females; median age 12 years, range 6 months to 16 years) underwent ICD implantation. The ICD was implanted for aborted sudden cardiac death ( n = 14), syncope ( n = 5) or for primary prevention of sudden cardiac death ( n = 4). Underlying cardiac disorders were electrical diseases ( n = 16), hypertrophic or dilated cardiomyopathy ( n = 4) and congenital cardiac malformations ( n = 3). Five patients had an epicardially placed ICD, while 18 underwent a transvenous approach. The generator was placed in an abdominal position in eight patients, whereas it was placed in the subpectoral region in 15. There was no early mortality. Median hospital stay was 5 days (range 2-30 days). Median follow-up time was 29 months (range 1 month to 7 years). Seven patients experienced an inappropriate shock after a median period of 7 months; five patients an appropriate shock after a median period of 3 months. The reasons for inappropriate shock were supraventricular tachycardia ( n = 1), sinus tachycardia ( n = 4) or T-wave sensing (n = 2). One patient with malignant long QT syndrome died of intractable arrhythmias and irreversible cardiomyopathy. Generator replacement was necessary in four patients after 28, 44, 51 and 54 months respectively. CONCLUSION: Implantable cardioverter-defibrillator implantation in paediatric patients is a safe procedure with a good medium-term outcome. The most serious problem is the occurrence of a significant number of inappropriate shocks.