Clinical features of Hirschsprung's disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan.
OBJECTIVE
To identify the clinical features in diagnosis and treatment of Hirschsprung's disease (HD) associated with Down syndrome (DS), the authors retrospectively analyzed data for patients with DS from the past 3 nationwide surveys in Japan. This survey was already approved by the Japanese Society of Pediatric Surgeons.


METHODS
Patient data were collected in 3 phases-phase I (1978-1982), n = 47; phase II (1988-1992), n = 79; and phase III (1998-2002), n = 90. In total, data on 216 patients (5.6%) of 3852 were collected and analyzed.


RESULTS
The incidence of DS in patients with HD was 2.9%, 7.1%, and 8.2% in phases I, II, and III, respectively, with a corresponding male/female ratio of 5:1, 2.4:1, and 5:1. The ratio of the extent of aganglionosis was nearly consistent across all phases. In phases I, II, and III, the incidence of total colonic aganglionosis was 2.1%, 0%, and 2.2%; and that of cardiovascular anomalies, 36.1%, 45.6%, and 55.6%; and that of preoperative enterocolitis, 31.0%, 26.6%, and 24.4%. The 2 most common surgical procedures were the Soave procedure, including transanal endorectal pull-through, and Duhamel procedure including Z-shaped anastomosis. The mortality rate decreased over time, from 26.1% in phase I to 11.4% in phase II and 7.8% in phase III. Almost all mortality cases were associated with cardiovascular anomalies: 54.5%, 62.5%, and 85.7% in phases I, II, and III, respectively.


CONCLUSIONS
The incidence of HD with DS has increased over time. The number of male patients and cardiac anomalies has also increased in the last 10 years. Total colonic aganglionosis was rare. A marked decrease in the overall mortality rate was observed.
Ieiri
Satoshi
S
Department of Pediatric Surgery, Reproductive and Developmental Medicine, Kyushu University, Fukuoka 812-8582, Japan. satoshi@med.kyushu-u.ac.jp
Higashi
Mayumi
M
Teshiba
Risa
R
Saeki
Isamu
I
Esumi
Genshiro
G
Akiyoshi
Junko
J
Nakatsuji
Takanori
T
Taguchi
Tomoaki
T
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology; D015897:Comorbidity; D013505:Digestive System Surgical Procedures / Q000379:methods; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology*; D004760:Enterocolitis / Q000453:epidemiology; D005260:Female; D006306:Health Surveys; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000601:surgery; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000453:epidemiology* / Q000601:surgery; D006801:Humans; D015994:Incidence; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008137:Longitudinal Studies; D008297:Male; D012189:Retrospective Studies; D012737:Sex Factors; D011795:Surveys and Questionnaires; D016896:Treatment Outcome