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Background <p>Delayed diagnosis of Hirschsprung disease (HD), defined as diagnosis after 12 months of age, is usually uncommon and, according to some authors, associated with a worse outcome. We aim to report our experience in a tertiary hospital in a Low-and-Middle-Income Country (LMIC).</p> Methods <p>A retrospective analysis was conducted using the RedCap<sup>®</sup> Database of the Johannesburg Paediatric Colorectal Clinic, which includes data from all HD patients since 2017. Patients who had pull-through surgery in other hospitals were excluded. The remaining patients were divided into delayed and non-delayed. Demographic and clinical data, including the number and type of surgeries, complications, and functional outcomes, were collected and compared between the two groups using the Mann-Whitney U and Fisher’s Exact Test.</p> Results <p>Of 80 patients with HD, 26 (32.5%) had a delayed diagnosis, with a median age of 3.14 (1–15) years. Of these, 5 patients were excluded from further analyses because they underwent a pull-through elsewhere. Patients with a delayed diagnosis underwent a median of 4 surgical procedures, compared to 3 in those diagnosed earlier (<i>p</i> = 0.013), but 97.5% of them required surgical diagnostic biopsies, compared to 23.8% in the non-delayed group (<i>p</i> &lt; 0.0001).</p> <p>No differences have been noticed in terms of the type of pull-through performed, number of complications and additional procedures required. Incontinence, constipation, and enterocolitis episodes were similar in both groups.</p> Conclusions <p>Delayed diagnosis of HD can be a burden for the healthcare system, as these patients usually require more surgical procedures compared to non-delayed patients, but even in a LMIC context, no significant differences have been seen in terms of complications and post-surgical outcomes, as well as bowel function.</p>

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The burden of delayed diagnosis in Hirschsprung disease: insights from a Paediatric Colorectal Centre in South Africa

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月10日

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  • Emanuele Trovalusci,
  • Tebogo Thelele,
  • Paola Midrio,
  • Catterina Bebington,
  • Chris Westgarth-Taylor,
  • Giulia Brisighelli

摘要

Background

Delayed diagnosis of Hirschsprung disease (HD), defined as diagnosis after 12 months of age, is usually uncommon and, according to some authors, associated with a worse outcome. We aim to report our experience in a tertiary hospital in a Low-and-Middle-Income Country (LMIC).

Methods

A retrospective analysis was conducted using the RedCap® Database of the Johannesburg Paediatric Colorectal Clinic, which includes data from all HD patients since 2017. Patients who had pull-through surgery in other hospitals were excluded. The remaining patients were divided into delayed and non-delayed. Demographic and clinical data, including the number and type of surgeries, complications, and functional outcomes, were collected and compared between the two groups using the Mann-Whitney U and Fisher’s Exact Test.

Results

Of 80 patients with HD, 26 (32.5%) had a delayed diagnosis, with a median age of 3.14 (1–15) years. Of these, 5 patients were excluded from further analyses because they underwent a pull-through elsewhere. Patients with a delayed diagnosis underwent a median of 4 surgical procedures, compared to 3 in those diagnosed earlier (p = 0.013), but 97.5% of them required surgical diagnostic biopsies, compared to 23.8% in the non-delayed group (p < 0.0001).

No differences have been noticed in terms of the type of pull-through performed, number of complications and additional procedures required. Incontinence, constipation, and enterocolitis episodes were similar in both groups.

Conclusions

Delayed diagnosis of HD can be a burden for the healthcare system, as these patients usually require more surgical procedures compared to non-delayed patients, but even in a LMIC context, no significant differences have been seen in terms of complications and post-surgical outcomes, as well as bowel function.