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  1. Chan EEH, Merchant K, Othman MY, Laksmi NK
    BMJ Case Rep, 2023 Apr 25;16(4).
    PMID: 37185243 DOI: 10.1136/bcr-2022-252484
    Hirschsprung's disease (HD) is one of the most well-known gastrointestinal motility disorders. Diagnosis and management of other lesser-known motility disorders are often challenging and tedious. We describe a teenager who was severely constipated from birth and needed intensive care admissions for life-threatening enterocolitis. She also had concomitant anal stenosis. Several rectal biopsies were unable to yield a conclusive diagnosis. Surgical level of resection had to be identified based on the motility of the bowel as determined by transit studies using oral ingestion of a milk feed labelled with Technetium-99m colloid. After completion of all operative stages, histopathological examination of the excised specimens concluded that she had short-segment HD associated with reduced interstitial cells of Cajal in the large bowel. She is currently continent, evacuating voluntarily approximately four times a day and is relieved of all her symptoms.
    Matched MeSH terms: Anorectal Malformations*
  2. Ganesan I, Rajah S
    Pediatr Nephrol, 2012 Jul;27(7):1125-30.
    PMID: 22382467 DOI: 10.1007/s00467-012-2128-6
    BACKGROUND: This study aims to predict risk factors for urological anomalies in children with anorectal malformations (ARM) and describes the clinical features of patients who have developed chronic kidney disease.

    METHODS: We retrospectively reviewed infants with ARM who received surgery and were followed at the Sabah Women and Children's Hospital, Malaysia, from 1986 to 2010.

    RESULTS: One hundred and twenty-two children with anorectal malformations were studied, after excluding 24 children with incomplete data. Three factors were significant as predictors of the presence of a urological anomaly: high ARM lesion (OR 3.12, 95%CI 1.1-8.9), the presence of genital abnormality (OR 2.95, 95%CI 1.10-7.91) and cloacal anomaly in girls (OR 8.27, 95% CI 1.91-35.6). The most common anomalies were vesicoureteric reflux, single kidney and neurogenic bladder. Chronic kidney disease (CKD) was noted in 5.7%, in children who had recurrent urinary tract infections, neurogenic bladder or complex renal tract pathology; end-stage renal failure was seen in only 0.8% of children with ARM.

    CONCLUSION: Urological anomalies were seen in 23% of patients, but the overall incidence of CKD and end-stage renal disease is low. Early identification of infants with ARM at risk of renal failure may be important for renal survival.

    Matched MeSH terms: Anorectal Malformations
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