Context

A strictly controlled diet (often involving enteral tube feeding (ETF)) is part of the treatment of many inherited metabolic diseases (IMDs).

Objective

To describe the use of ETF in a large cohort of patients with IMDs.

Design

A retrospective analysis of ETF in patients with urea cycle disorders (UCDs), organic aciduria (OA), maple syrup disease (MSUD), glycogen storage diseases (GSDs) or fatty acid oxidation disorders (FAODs) diagnosed before the age of 12 months.

Setting

The reference center for IMDs at Necker Hospital (Paris, France).

Results

190 patients born between January 1991 and August 2017 were being treated for OA (n = 60), UCDs (n = 55), MSUD (n = 32), GSDs (n = 26) or FAODs (n = 17). Ninety-eight of these patients (52%) received ETF (OA subgroup: n = 40 (67%); UCDs: n = 12 (22%); MSUD: n = 9 (28%); GSDs: n = 23 (88%); FAODs: n = 14 (82%)). Indications for ETF were feeding difficulties in 64 (65%) patients, cessation of fasting in 39 (40%), and recurrent metabolic decompensation in 14 (14%). Complications of ETF were recorded in 48% of cases, more frequently with nasogastric tube (NGT) than with gastrostomy. Among patients in whom ETF was withdrawn, the mean duration of ETF was 5.9 (SD: 4.8) years (range: 0.6–19.8 years). The duration of ETF was found to vary from one disease subgroup to another (p = 0.051). While the longest median duration was found in the GSD subgroup (6.8 years), the shortest one was found in the UCD subgroup (0.9 years).

Conclusion

ETF is an integral part of the dietary management of IMDs. The long duration of ETF and the specific risks of NGT highlights the potential value of gastrostomy.

In this study at a French tertiary hospital, we documented the indications, modalities, duration and complications of enteral tube feeding in a cohort of patients with inherited metabolic diseases.

中文翻译：

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接受饮食治疗代谢性疾病患者的肠内管饲：一项大型法国队列的回顾性分析

语境

严格控制的饮食（通常涉及肠内管饲 (ETF)）是许多遗传性代谢疾病 (IMD) 治疗的一部分。

客观的

描述 ETF 在大量 IMD 患者中的使用。

设计

对 12 个月前诊断的尿素循环障碍 (UCD)、有机酸尿 (OA)、枫糖浆病 (MSUD)、糖原贮积病 (GSD) 或脂肪酸氧化障碍 (FAOD) 患者进行 ETF 的回顾性分析。

环境

Necker 医院（法国巴黎）的 IMD 参考中心。

结果

在 1991 年 1 月至 2017 年 8 月期间出生的 190 名患者正在接受 OA（n  = 60）、UCD（n  = 55）、MSUD（n  = 32）、GSD（n  = 26）或FAOD（ n  = 17）的治疗。这些患者中有 98 名 (52%) 接受了 ETF（OA 亚组：n  = 40 (67%)；UCD：n  = 12 (22%)；MSUD：n  = 9 (28%)；GSD：n  = 23 ( 88%）；FAOD：n = 14 (82%))。ETF 的适应症是 64 名 (65%) 患者出现喂养困难，39 名 (40%) 患者停止禁食，14 名 (14%) 患者出现复发性代谢失代偿。48% 的病例记录了 ETF 的并发症，鼻胃管 (NGT) 的并发症发生率高于胃造口术。在撤回 ETF 的患者中，ETF 的平均持续时间为 5.9（SD：4.8）年（范围：0.6-19.8 年）。发现 ETF 的持续时间因一个疾病亚组而异（p  = 0.051）。GSD 亚组中位持续时间最长（6.8 年），UCD 亚组中位持续时间最短（0.9 年）。

结论

ETF 是 IMD 饮食管理的一个组成部分。ETF的长期限和NGT的特定风险凸显了胃造口术的潜在价值。

在法国一家三级医院的这项研究中，我们记录了一组遗传性代谢疾病患者的肠内管饲的适应症、方式、持续时间和并发症。