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Hirschsprung disease in a pregnant woman From: T-H Bui, Clinical Genetics, Karolinska Hospital (bui@gen.ks.se) Mon Jul 29 06:44:28 1996 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: DoctorJoe@aol.com: "Re: Doula's" Previous message: timothy fitzpatrick: "Re: Milk in the bladder" Dr G. Klein inquired about (previous) Hirschsprung disease in a pregnant patient. There is a good summary of the genetical aspects of this heterogeneous disorder that can be obtained through the OMIM-web (Online Mendelian Inheritance in Man) at 'http://www3.ncbi.nlm.nih.gov:80/searchomim.html'. Just enter 'Hirschsprung' in the search engine. The disorder can be divided into syndromal and non-syndromal, and among the latter between long-segment (beyond sigmoid colon) and short segment. Although molecular genetics is likely to change this type of subdivision. If the family history only reveals the proposita with this disorder, empiric risk figures for first grade relatives of a female patient is 7.2% while it is 2.6% for an affected male can be used. In those families were a mutation has been found (RET and endothelin B) there is, of course, the possibility of prenatal diagnosis. The inheritance pattern is often autosomal dominant with incomplete penetrance. However, there is no large demand for prenatal diagnosis in our (limited) experience. ***************************************************************** The-Hung Bui, M.D. Associate Head Physician -- Department of Clinical Genetics Karolinska Hospital S-171 76 Stockholm, Sweden phone: +46 8 729 4989 or 729 2472 (secretary) fax: +46 8 32 77 34 E-mail: bui@gen.ks.se or The-Hung.Bui@molmed.ki.se ****************************************************************** Next message: DoctorJoe@aol.com: "Re: Doula's" Previous message: timothy fitzpatrick: "Re: Milk in the bladder"

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