背景:碱蛋白尿(AKU)中的蛋白质营养障碍,导致Nitisinone治疗前均质酸(HGA)增加,Nitisinone治疗期间酪氨酸(TYR)增加,可能受益于饮食干预。这项研究的目的是前瞻性地描述在接受Nitisinone的国家碱性尿症中心(NAC)患者中接受正式饮食干预的患者中的饮食及其影响,而在不接受Nitisinone的情况下,Nitisinone在碱性尿症中的适用性2(SN2N-)和Nitisinone治疗的SN2(2SNN)随机研究组。
方法:来自NAC的总共63、69和69名AKU患者,SN2N-,和SN2N+进行了人体测量学研究(体重,BMI),身体成分(包括肌肉质量,%身体脂肪,手握力),化学特征(血清TYR,血清苯丙氨酸,尿尿素或uUREA,和尿肌酐或uCREAT),和角膜角膜病变。NAC和SN2N+组使用了2毫克和10毫克的Nitisinone,分别。营养学家管理NAC中的蛋白质摄入量,而SN2N-和SN2N+组仅在4年的研究期间接受了关于自我指导蛋白限制的建议。
结果:UUREA在NAC中下降,SN2N-,和SN2N+组,表明在这些组中实现了蛋白质限制。NAC和SN2N+组的体重和BMI增加。在四年的研究中,与NAC相比,SN2N-和SN2N+中的uCREAT显着降低。NAC组的角膜角膜病变发生率低于SN2N组。积极的饮食干预NAC稳定的瘦体重(肌肉质量,手握力)尽管uUREA和uCREAT下降,以及STYR。
结论:持续的饮食干预可以防止瘦体重的损失,尽管蛋白质限制和适度的血清酪氨酸增加,导致不太普遍的角膜角膜病变。蛋白质限制会增加脂肪质量。
BACKGROUND: Protein nutrition disorder in
alkaptonuria (AKU), resulting in increased homogentisic acid (HGA) before nitisinone therapy and increased tyrosine (TYR) during nitisinone therapy, may benefit from dietetic intervention. The aim of this study was to characterise the diet and their effects prospectively in those who received formal dietetic intervention in the nitisinone-receiving National
Alkaptonuria Centre (NAC) patients with those who did not in no-nitisinone Suitability of Nitisinone in
Alkaptonuria 2 (SN2 N-) and nitisinone-treated SN2 (SN2 N+) randomised study groups.
METHODS: A total of 63, 69, and 69 AKU patients from the NAC, SN2 N-, and SN2 N+ were studied for anthropometric (weight, BMI), body composition (including muscle mass, %body fat, hand grip strength), chemical characteristics (serum TYR, serum phenylalanine, urine urea or uUREA, and urine creatinine or uCREAT), and corneal keratopathy. Nitisinone 2 mg and 10 mg were employed in the NAC and SN2 N+ groups, respectively. Dieticians managed protein intake in the NAC, while the SN2 N- and SN2 N+ groups only received advice on self-directed protein restriction during four years of study duration.
RESULTS: uUREA decreased in the NAC, SN2 N-, and SN2 N+ groups, showing that protein restriction was achieved in these groups. Body weight and BMI increased in the NAC and SN2 N+ groups. uCREAT decreased significantly in SN2 N- and SN2 N+ compared with the NAC over four years of study. Corneal keratopathy was less frequent in the NAC than in the SN2 N+ group. Active dietetic intervention in NAC stabilised lean body mass (muscle mass, hand grip strength) despite a decrease in uUREA and uCREAT, as well as sTYR.
CONCLUSIONS: Ongoing dietetic intervention prevented loss of lean body mass despite protein restriction and moderated serum tyrosine increase, leading to less prevalent corneal keratopathy. Protein restriction risks fat mass gain.