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1.
Mol Genet Metab ; 123(4): 428-432, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29510902

RESUMO

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by aldolase B (ALDOB) deficiency resulting in an inability to metabolize fructose. The toxic accumulation of intermediate fructose-1-phosphate causes multiple metabolic disturbances, including postprandial hypoglycemia, lactic acidosis, electrolyte disturbance, and liver/kidney dysfunction. The clinical presentation varies depending on the age of exposure and the load of fructose. Some common infant formulas contain fructose in various forms, such as sucrose, a disaccharide of fructose and glucose. Exposure to formula containing fructogenic compounds is an important, but often overlooked trigger for severe metabolic disturbances in HFI. Here we report four neonates with undiagnosed HFI, all caused by the common, homozygous mutation c.448G>C (p.A150P) in ALDOB, who developed life-threatening acute liver failure due to fructose-containing formulas. These cases underscore the importance of dietary history and consideration of HFI in cases of neonatal or infantile acute liver failure for prompt diagnosis and treatment of HFI.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas/diagnóstico , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Intolerância à Frutose/induzido quimicamente , Frutose-Bifosfato Aldolase/genética , Fórmulas Infantis/efeitos adversos , Mutação , Feminino , Intolerância à Frutose/complicações , Frutose-Bifosfato Aldolase/deficiência , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico
2.
Diabetes Care ; 42(11): 2143-2150, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31501226

RESUMO

OBJECTIVE: To determine whether prior type 2 diabetes (T2D) treatment or glycemic control over time are independently associated with heart rate variability (HRV) and whether the presence of cardiac autonomic dysfunction is associated with arterial stiffness in young adults with youth-onset T2D enrolled in the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) study. RESEARCH DESIGN AND METHODS: Heartbeats over 10 min were measured to derive the normal R-Rs (NN intervals). Outcomes included the standard deviation of the NN intervals (SDNN), the root mean square differences of successive NN intervals (RMSSD), percent of NN beats that differ by more than 50 ms (PNN50), and the low-frequency (LF) power domain, high-frequency (HF) power domain, and their ratio (LF:HF). Autonomic dysfunction was defined as ≥3 of 5 abnormal HRV indices compared with obese controls from a separate study. RESULTS: A total of 397 TODAY participants were evaluated 7 years after randomization. TODAY participants had reduced HRV (SDNN 58.1 ± 29.6 ms vs. controls 67.1 ± 25.4 ms; P < 0.0001) with parasympathetic loss (RMSSD 53.2 ± 36.7 ms vs. controls 67.9 ± 35.2 ms; P < 0.0001) with sympathetic overdrive (LF:HF ratio 1.4 ± 1.7 vs. controls 1.0 ± 1.1; P < 0.0001). Cardiac autonomic dysfunction was present in 8% of TODAY participants, and these participants had greater pulse wave velocity compared with those without dysfunction (P = 0.0001). HRV did not differ by randomized treatment, but higher hemoglobin A1c (HbA1c) over time was independently associated with lower SDNN and RMSSD and higher LF:HF ratio after adjustment for age, race-ethnicity, sex, and BMI. CONCLUSIONS: Young adults with youth-onset T2D show evidence of cardiac autonomic dysfunction with both parasympathetic and sympathetic impairments that are associated with higher HbA1c.


Assuntos
Arritmias Cardíacas/epidemiologia , Doenças do Sistema Nervoso Autônomo/epidemiologia , Diabetes Mellitus Tipo 2/fisiopatologia , Rigidez Vascular/fisiologia , Adolescente , Arritmias Cardíacas/etiologia , Sistema Nervoso Autônomo/fisiopatologia , Doenças do Sistema Nervoso Autônomo/etiologia , Criança , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Feminino , Seguimentos , Hemoglobinas Glicadas/metabolismo , Coração/fisiopatologia , Frequência Cardíaca/fisiologia , Humanos , Hipoglicemiantes/uso terapêutico , Masculino , Prevalência , Análise de Onda de Pulso , Fatores de Risco , Adulto Jovem
3.
J Pediatr Endocrinol Metab ; 28(5-6): 721-4, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25581742

RESUMO

We report a 9-year-old female who presented with new onset intractable seizure activity followed by a prolonged encephalopathic state. After ruling out common etiologies, Hashimoto's encephalopathy (HE) was considered, and antibody levels to thyroid peroxidase and thyroglobulin were both markedly elevated in her serum. She was euthyroid at the time of presentation. Upon treatment with high dose methylprednisolone, the patient demonstrated a significant improvement in her encephalopathy. The diagnosis of HE requires strong clinical suspicion with evidence of antithyroid antibodies, as well as an encephalopathy not explained by another etiology. While well documented in the adult literature, only a handful of pediatric cases have been described to date. Patients with HE have a nearly universal response to high dose glucocorticoids. HE should be considered in the differential diagnosis of any patient, adult or pediatric, who displays prolonged, unexplainable encephalopathy.


Assuntos
Encefalite/diagnóstico , Doença de Hashimoto/diagnóstico , Criança , Encefalite/complicações , Encefalite/tratamento farmacológico , Feminino , Doença de Hashimoto/complicações , Doença de Hashimoto/tratamento farmacológico , Humanos , Imageamento por Ressonância Magnética , Metilprednisolona/uso terapêutico , Convulsões/complicações
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