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Hirshprung's Disease From: Terrence.Jones@ncal.kaiperm.org Fri Jul 26 15:17:06 1996 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: MBK80@aol.com: "Re: bladder exstrophy and uterine prolapse" Previous message: Elliot Greenberg: "P elvic Pain" Geff, is it laziness, or just the heat in Houston? Would recommend genetics consult for the Mom with hx of Hirschsprung's. The past couple of years have yielded some interesting findings regarding the activity of the RET (REarranged during Transfection) proto-oncogene and membrane receptor tyrosine kinase (Gagel, Bone (8/95) 17:135-65). Mutations causing activation of tyrosine kinase have been implicated in MEN 2A & 2B, and the assoc C-cell (medullary) thyroid neoplasia. Diminished tyrosine kinase and subsequent protein synthesis, may be the mechanism of neurocrestopathy in aganglionic bowel segments. This paradigm may be overly simplistic as the combination of both HD AND MEN has been shown to occur rarely, and in fact was traced to RET codon 618 ser mutation on 10q -- thymine-to-adenine base change at 618 results in cysteine-to-serine subst. (Borst, Surgery (4/95), 117:386-91). Familial inheritance pattern appears to be autosomal dom with inc. penetrance. Some individuals may have minimal functional GI impairment and don't require surgical correction - the histology in such cases described as neuronal intestinal dysplasia (Reyna, Ped. (9/94), 94:347-9). In fact, similar segments of bowel neighboring aganglionic sites may not be appreciated as such during resection and pull-thru surgery, and cause persistent GI dysfunction in pts undergoing surgery with clinical HD (Kobayashi, J Ped Surg (2/95), 30:253-7). Epidemiologic studies by Russell in Denmark show an incidence of 1:7165 live births with a male:female preponderance of 4:1 in short segment syndrome, and 2:1 in long seg. The incidence of other anomalies was examined. There was NO increase in CHD (2%), but an interesting assoc was found with T-21 = 9 of 207 (Russell, Acta Paed (1/94) 83:687-71). A study of familial inheritance patterns reveals a minimum 93-fold increase risk of clinical disease in first degree relatives (Russell, Clin Gen (5/94), 45: 251-5), compared with the gen'l pop. Tying in other aberrations of neural crest cell migration and differentiation, an assoc has also been made with central hypoventilation (Ondine's curse/ sleep apnea); one study suggesting an incidence of 1.8% (el-Halaby, J Ped Surg (4/94) 29:530-5). Rx: Genetics Consult // tj. Next message: MBK80@aol.com: "Re: bladder exstrophy and uterine prolapse" Previous message: Elliot Greenberg: "P elvic Pain"

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