Shwachman-Diamond Syndrome shwachmanDiamond syndrome. Patients who present with increased volume andfrequency of fatty stools need testing for pancreatic function to rule out http://depts.washington.edu/registry/S-D.htm
Extractions: Patients who present with increased volume and frequency of fatty stools need testing for pancreatic function to rule out Shwachman-Diamond syndrome (SDS). SDS is an inherited ( autosomal recessive ) condition with multisystemic abnormalities including pancreatic insufficiency (problems with digestion of fats in the diet resulting in large volume fatty stools), neutropenia , and short stature. At the time of diagnosis the features of SDS are extremely variable. The vast majority of patients are diagnosed in infancy, with symptoms of fatty stools and poor growth, with or without haematological abnormalities (including neutropenia), but other less common features can also be present at diagnosis. These include (extreme) short stature, skeletal abnormalities, and marked liver enlargement . SDS must be considered even if clinical symptoms of pancreatic insufficiency are absent because a significant percentage of patients develop pancreatic insufficiency later, or indeed their symptoms may have resolved prior to the recognition of neutropenia. If neutropenia becomes severe, these patients also suffer from recurrent bacterial infections and treatment with
Shwachman Das shwachmanDiamond Syndrom wurde erstmals 1964 beschrieben. http://www.shwachman.de/
Íàó÷íàÿ ìîíîãðàôèÿ î ïðåïàðàòå Êðåîí - Çàáî The summary for this Russian page contains characters that cannot be correctly displayed in this language/character set. http://medi.ru/doc/1703006.htm
Extractions: medi.ru Ìóêîâèñöèäîç (MB) ). Åñòü ñîîáùåíèÿ (1996 ã.) î 30-ëåòíåé ïðîäîëæèòåëüíîñòè æèçíè (CCF patient registry 1996; Annual Data Report). Ïðîöåíò âçðîñëûõ áîëüíûõ âûðîñ ñ 22,8% â 1977 ãîäó äî 31,3% â 1989 ãîäó
