RESUMO
BACKGROUND: Peritoneal dialysis (PD) is the most common kidney replacement therapy in children. Complications associated with PD affect treatment success and sustainability. The aim of this study was to investigate the frequency of PD-related non-infectious complications and the predisposing factors. METHODS: Retrospective data from 11 centers in Turkey between 1998 and 2018 was collected. Non-infectious complications of peritoneal dialysis (NICPD), except metabolic ones, in pediatric patients with regular follow-up of at least 3 months were evaluated. RESULTS: A total of 275 patients were included. The median age at onset of PD and median duration of PD were 9.1 (IQR, 2.5-13.2) and 7.6 (IQR, 2.8-11.9) years, respectively. A total of 159 (57.8%) patients encountered 302 NICPD within the observation period of 862 patient-years. The most common NIPCD was catheter dysfunction (n = 71, 23.5%). At least one catheter revision was performed in 77 patients (28.0%). Longer PD duration and presence of swan neck tunnel were associated with the development of NICPD (OR 1.191; 95% CI 1.079-1.315, p = 0.001 and OR 1.580; 95% CI 0.660-0.883, p = 0.048, respectively). Peritoneal dialysis was discontinued in 145 patients; 46 of whom (16.7%) switched to hemodialysis. The frequency of patients who were transferred to hemodialysis due to NICPD was 15.2%. CONCLUSIONS: Peritoneal dialysis-related non-infectious complications may lead to discontinuation of therapy. Presence of swan neck tunnel and long duration of PD increased the rate of NICPD. Careful monitoring of patients is necessary to ensure that PD treatment can be maintained safely.
Assuntos
Falência Renal Crônica , Diálise Peritoneal , Peritonite , Criança , Humanos , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/terapia , Diálise Peritoneal/efeitos adversos , Peritônio , Peritonite/epidemiologia , Peritonite/etiologia , Diálise Renal , Estudos RetrospectivosAssuntos
Hipernatremia/tratamento farmacológico , Ictiose/tratamento farmacológico , Síndrome de Netherton/tratamento farmacológico , Deleção de Sequência , Bicarbonato de Sódio/uso terapêutico , Óxido de Zinco/uso terapêutico , Sequência de Bases , Fármacos Dermatológicos/uso terapêutico , Combinação de Medicamentos , Humanos , Hipernatremia/etiologia , Recém-Nascido , Calicreínas/antagonistas & inibidores , Síndrome de Netherton/complicações , Síndrome de Netherton/genética , Pomadas/uso terapêutico , Proteínas Secretadas Inibidoras de Proteinases/genética , Inibidor de Serinopeptidase do Tipo Kazal 5RESUMO
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is a rare autosomal recessive disorder caused by the functional deficiency of the mitochondrial ornithine transporter 1 (ORC1). ORC1 is encoded by the SLC25A15 gene and catalyzes the transport of cytosolic ornithine into mitochondria in exchange for citrulline. Although the age of onset and the severity of the symptoms vary widely, the disease usually manifests in early infancy. The typical clinical features include protein intolerance, lethargy, episodic confusion, cerebellar ataxia, seizures and mental retardation. In this study, we identified a novel p.Ala15Val (c.44C>T) mutation by genomic DNA sequencing in a Turkish child presenting severe tantrum, confusion, gait disturbances and loss of speech abilities in addition to hyperornithinemia, hyperammonemia and homocitrullinuria. One hundred Turkish control chromosomes did not possess this variant. The functional effect of the novel mutation was assessed by both complementation of the yeast ORT1 null mutant and transport assays. Our study demonstrates that the A15V mutation dramatically interferes with the transport properties of ORC1 since it was shown to inhibit ornithine transport nearly completely.
