Reyna T M
Pediatric/General Surgery Service, William Beaumont Army Medical Center, El Paso, TX.
Pediatrics. 1994 Sep;94(3):347-9.
To better define the types of transmission of Hirschsprung's disease (HD) in order to allow for earlier diagnosis and treatment and reduction of attendant morbidity.
A proband with HD was identified. A detailed family history was obtained and a 54-member, five-generation family pedigree constructed and analyzed.
Six members of the kindred presented with classic biopsy-proven HD. Two of the six members were a pair of dizygotic twins. Three additional members had symptoms reminiscent of HD or HD variant (neuronal intestinal dysplasia) and were managed nonoperatively. There was one death related to HD. Hirschsprung's disease was manifested in offspring of both affected parent(s) and unaffected parents. Symptom manifestation was noted to skip generations.
Analysis of this kindred lends strong evidence to the possibility of autosomal dominant inheritance. This inheritance has a variable penetrance (expression) that may be a factor of mutation or of a spectrum of the disease, ie a type of neural crestopathy. Kindreds of this sort need to be identified to allow for a complete data collection and understanding of the vagaries of HD transmission. This detailed documentation will allow for earlier diagnosis and effective treatment and possible gene localization of the specific defect.
更好地明确先天性巨结肠症（HD）的遗传类型，以便能更早地进行诊断和治疗，并降低相关发病率。
确定一名HD先证者。获取详细的家族病史，并构建和分析了一个包含54名成员的五代家族谱系。
该家族中有6名成员经活检证实患有典型的HD。其中两名成员是一对异卵双胞胎。另外3名成员有类似HD或HD变异型（神经源性肠发育异常）的症状，未接受手术治疗。有1例死亡与HD相关。HD在患病父母和未患病父母的后代中均有表现。症状表现存在隔代遗传现象。
对该家族的分析为常染色体显性遗传的可能性提供了有力证据。这种遗传具有可变的外显率（表达），这可能是突变或疾病谱系的一个因素，即一种神经嵴病类型。需要识别出这类家族，以便进行完整的数据收集，并了解HD遗传的复杂性。这种详细的记录将有助于早期诊断和有效治疗，以及可能的特定缺陷基因定位。
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