RESUMO
This corrects the article DOI: 10.1038/ejcn.2016.166.
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BACKGROUND/OBJECTIVES: Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanine hydroxylase. A low phenylalanine (Phe) diet is used to treat PKU. The diet is very restrictive, and dietary adherence tends to decrease as patients get older. Methods to improve dietary adherence and blood Phe control are continuously under investigation. SUBJECTS/METHODS: A new formula Phe-neutral amino acid (PheLNAA) has been tested in this study with the purpose of improving the compliance and lowering blood phenylalanine. The formula has been tested for nitrogen balance, and it is nutritionally complete. It is fortified with more nutritional additives that can be deficient in the PKU diet, such as B12, Biotin, DHA, Lutein and increased levels of large neutral amino acids to help lower blood Phe. The new formula has been tested on 12 patients with a loading test of 4 weeks. RESULTS: Fifty-eight percent of patients had a significant decline in blood Phe concentration from baseline throughout the study. The PheLNAA was well tolerated with excellent compliance and without illnesses during the study. CONCLUSIONS: In conclusion, the new formula is suitable for life-long treatment of PKU, and it offers the PKU clinic a new choice for treatment.
Assuntos
Aminoácidos Neutros/administração & dosagem , Alimentos Formulados , Alimentos Fortificados , Fenilalanina/sangue , Fenilcetonúrias/dietoterapia , Adolescente , Feminino , Humanos , Masculino , Cooperação do Paciente/psicologia , Fenilcetonúrias/sangue , Fenilcetonúrias/psicologia , Resultado do TratamentoAssuntos
Alopecia/diagnóstico , Anodontia/diagnóstico , Transtornos do Crescimento/diagnóstico , Perda Auditiva/diagnóstico , Atrofias Ópticas Hereditárias/diagnóstico , Doenças Vestibulares/diagnóstico , Alopecia/complicações , Anodontia/complicações , Criança , Feminino , Transtornos do Crescimento/complicações , Perda Auditiva/complicações , Humanos , Recém-Nascido , Atrofias Ópticas Hereditárias/complicações , Fenótipo , Doenças Vestibulares/complicaçõesRESUMO
OBJECTIVE: Cinacalcet is a calcimimetic agent, recommended for treating refractory secondary hyperparathyroidism in patients undergoing dialysis. The aim of this study was to evaluate the efficacy and safety of cinacalcet, comparing patients with baseline iPTH > 300 pg/ml with those with iPTH < 300 pg/ml. METHOD: Observational retrospective study of patients being treated with cinacalcet 30 mg/day from January 2008 to January 2009. We studied 26 patients, 15 with iPTH > 300 pg/ml and 11 with iPTH < 300 pg/ml. The primary efficacy outcome was that there was a reduction between baseline and final iPTH (4 month). The secondary efficacy outcome were the reduction between basal and final calcium, phosphorus, Ca x P, and the percentage of patients with an iPTH decrease > 30%. The safety was evaluated based on the most frequent adverse effects and the levels of serum calcium < 8.6 mg/dl. RESULTS: Patients with initial iPTH > 300 had significant differences before and after cinacalcet treatment in iPTH (563.49+286.88 pg/ml vs 315.15+201.948 pg/ml; P=.017) and serum calcium (9.1+1.77 mg/dl vs 8.15+1.2mg/dl; P=.02). There were no significant differences in patients with initial iPTH < 300 pg/ml. A decrease greater than 30% from baseline iPTH was observed in 60% of patients with baseline iPTH > 300 pg/ml, and only in 27.3% of those with basal iPTH < 300 pg/ml (P=.098). Patients did not show gastric intolerance. CONCLUSIONS: Cinacalcet is an effective and safe drug for controlling secondary hyperparathyroidism in dialysis, mainly when it is used in patients with baseline iPTH > 300 pg/ml.