Lifestyle, ụmụaka na syndrome Shvahmana Diamond

Ọ bụrụ na nwa na ọnwa mbụ nke ndụ nweela erughị 100 grams, ọ dịla kwa ugboro ugboro, omume rụrụ, nnọọ kegriiz oche, na ihe fọrọ nke nta ọ bụla agụụ, i nwere ike iche na ọnụnọ nke ọrịa ndị dị ka Shvahmana-Diamond syndrome. Na ụmụ, ọrịa na-akpata ndị a mgbaàmà.

Ileba History: akpatara

N'oge opupu ihe ubi nke 1964, ọkà mmụta sayensị anya Bodian na Sheldon maka oge mbụ kọwara mgbaàmà nke ọrịa, na-akpọ ya hypoplasia nke pancreas. Mgbe oge ụfọdụ gasịrị, ọzọ na-eme nchọpụta tandem kpebiri anya ọzọ anya n'ime okwu, nke mere na ọ bịara doo anya na e nwere a ubé dị iche iche ụdị ọrịa. N'ihi ya, e Shvahmana-Diamond syndrome.

Nke a na ọrịa na-emetụta ụmụ ọhụrụ bụ nnọọ obere. Statistics na-egosi na-arịa ọrịa na puku iri ise ụmụ. O sina dị, ọrịa dị adị nakwa na mkpụrụ ndụ ihe nketa, nke na-agafere na nwa si ma nne na nna na-autosomal recessive n'ụzọ. Ihe kachasi mkpa n'ime usoro idu ke a gaghị agara nso nke mmụba 7th chromosome site n'usoro abbreviated SBDS. Nke a site n'usoro nwere a kpọmkwem protein nke dị nkeji ichekwa na mmadụ ọ bụla ngwa, ma ya kasị ukwuu ọtụtụ ndetu na pancreas. N'ihi ya, mgbe a site n'usoro mutation emee endocrine dysfunction nke ngwa na-akwusila na mmepụta nke lipase, karị, bụ ugbu erughi nke enzyme. Ọ bụ ezie na ọrịa na-ghọtara, na kpọmkwem ọrụ nke mutating a site n'usoro bụ amaghi, ọ chọpụtara na, na mgbakwunye na-malfunctions nke pancreas, ọ destructively emetụta ụmị ọkpụkpụ.

Otutu-ata ahụhụ site na ọrịa a natara gahiere agahie site n'usoro ndị mụrụ ha. Ma, e nwekwara sporadik ikpe nke ọdịdị nke ọrịa n'oge na-amalite amalite na mmepe na-enwe mmetụta mumps virus, ma ọ bụ, n'ihi na ihe atụ, Coxsackie.

Ọrịa Shvahmana Diamond: Mgbaàmà

Ọ bụ obere aghara ji na-egbu oge ọgụgụ isi na uche na nke anụ development. Mgbaàmà nwere ike iyi ka a ụbọchị ọmụmụ, na a isii n'ọnwa nke afọ, na mmalite nke iwebata arụkọ oriri.

• The mbụ na nke kasị dị ịrịba ama nke ọrịa - a nkịtị na kpọmkwem afọ ọsịsa. The oche nwere nnọọ abụba ọdịnaya, ụrọ na agba na fetid ísì ụtọ. Ndị ọkachamara na-akpọ ya steatorrhea.
• Against ndabere nke a na-adịgide adịgide aghara nwa-amalite ngwa ngwa hapụ arọ na agụụ, bụ nke na-eduga ná njọ n'anya.
• Children na syndrome Shvahmana Diamond ewekarị Ugboro ọrịa n'ihi na ha dịghịzi usoro na-budata ebelatawo.
• ụmị ọkpụkpụ dysfunction na-eduga ná njọ ehihie na ọbara usoro - ọtụtụ mgbe hụrụ anaemia ná mgbanwe nke ogo, neutropenia (belata echebe ọrụ), thrombocytopenia (ọbara ọgbụgba aghara na dị ka a na ya pụta, ọchịchọ profuse ọbara na ọnwụ). Ọtụtụ mgbe, e pancytopenia - a nkọ Mbelata ke niile mkpụrụ ndụ ọbara.
• Mmiri ọgwụ disturbances iduga mkpụmkpụ na-egbu oge mmalite oge uto (na mgbe e mesịrị bụrụ na).
• Enwe ọgụgụ isi na neuro-psychic okirikiri.
• Ọzọkwa na ọrịa Shvahmana Diamond syndrome akara skeletal anomalies, nsogbu nke ịnweta akụrụngwa, Ugboro fractures-enweghị ezi uche.

On nke ụdị ọrịa emee, ọ na-adabere maka ọrịa na ya prognosis. Ka ihe atụ, n'ebe na-adịghị niile dị n'elu ọrịa na mgbaàmà nke syndrome nke dịkwa nwayọọ, mgbe a siri ike n'ụdị e ji a ngwa ngwa na oké ọjọọ n'ezie.

N'ezie, ọrịa na-emetụta ndị ga-eme n'ọdịnihu n'ụzọ ndụ nke ma ọrịa na-elekọta. The nwa kwesịrị mgbe nile na-elekọta, na-elekọta ma anya. Ọzọkwa mkpa Ugboro ụlọ ọgwụ dị iche iche clinics, zuo nke oké ọnụ ọgwụ ọjọọ eme ihe iji na-azụ ndụ na ike nke ụmụ. Ke adianade do, eto eto ndị ọrịa bụ ndị oké mkpa na ihe oriri, na ndụ.

nchoputa nke ọrịa

Nchọpụta ọrịa, ọ dị mkpa ka ọdịiche dị ya si cystic fibrosis, nke nwere yiri mgbaàmà nke ọrịa. Cystic fibrosis bụ oké mkpụrụ ndụ ihe nketa na pancreatic daa ọrịa. Iji mata kpọmkwem nchoputa kenyere n'ihe elastase ịta (na enzyme) na na nsị na ajirija sample. Ọ bụrụ na ịta nke sodium chloride na ajirija ụba na elastase na nnwale na-ebelata, mgbe ahụ sample bụ mma maka cystic fibrosis. Ma ọ bụghị ya, dọkịta nwere banyere ọrịa, nke a na-akpọ Shvahmana-Diamond syndrome.

Diagnosis nke ọrịa a bụ dị iche iche oké mgbagwoju, n'ihi na na-emekarị ihe mgbaàmà na-oke akpọ. Ya mere, ọ bụla ruru eru pediatrician nwere ike chee na ọnụnọ nke ọrịa. A set nke na-eme iji na ịmata ihe na-syndrome-agụnye ndị na-esonụ:

1. The dọkịta kwesịrị anakọta anamnesis, na-eji nwayọọ ajụjụ ọnụ ndị nne na nna mgbe nwa nwere ihe e ji mara mgbaàmà nke a mushy stool, enweghị agụụ, ibu ụkọ na ndị ọzọ na atụmatụ. Itunanya bu na, afọ ọsịsa na ụmụ na syndrome Shvahmana Diamond, nwere ike iru 14 ugboro n'ụbọchị.
2. Doctor ga dokwuo anya ihe mere eme, na-ezo aka ndị ezinụlọ ọrịa, nakwa dị ka figuring otú mgbe na nwa na-arịa ọrịa na-efe efe.
3. Nke a na-agbaso site kpọmkwem ule nke ọrịa: ji atụ okpomọkụ ma na nsogbu, nke elucidation nke usu ugboro, na-ege ntị stethoscope obi na akpa ume, palpation nke esịtidem akụkụ.
4. Ekenịmde mbara adakarị analysis nke ọbara na stool. Na-emekarị, nke ikpeazụ na-egosi a akpọ steatorrhea. ọbara budata isi, ma sugar na-abụkarị nkịtị.
5. Kara a ọmụmụ nke mmamịrị. Na urinalysis elu protein, mkpụrụ ndụ ọbara uhie na mkpụrụ ndụ ọbara ọcha.
6. Mgbe ihe ndị a ọmụmụ compulsorily inye CT, MRI nke afo na ultrasound. Ọ bụrụ na kwuru syndrome emee, ndị pancreatic daa ọrịa n'ụzọ zuru ezu enen.
7. Dị ka a na-achị, a pediatrician eduzi ndidi gakwuru a Mkpụrụ Ndụ Ihe Nketa, na gastroenterologist. Ị nwere ike mkpa X-ray ọmụmụ nke ọkpụkpụ anụ ahụ na ọgwụgwụ nke a nephrologist.
8. Ma ndị kasị oké ọnụ na a pụrụ ịdabere bụ DNA analysis.

ọgwụgwọ jikoro

Ọgwụgwọ nke ọrịa na syndrome Shvahmana Diamond na-isi na-eduzi na ịnọgide na-enwe dị mkpa ọrụ.
Iji mee nke a, na-eji dochie anya ọgwụ - ẹkụre efu enzymes na homonụ. pancreatin ọgwụ ọjọọ na elu Dosages na-e maka ndụ. Ọ dịkwa mkpa iji weghachi ọbara usoro. Na nke a, ndị kacha na-emeso anaemia amenable. Ọ bụrụ na e na-metụtara na-efe efe (n'ihi akpọ immunodeficiency nwa bụ mgbe na-arịa ọrịa), mgbe ahụ jikọọ ude. Na pathologies ji oké ike, iji ụzarị ọkụ na-anara ọgwụ na ụmị ọkpụkpụ transplantation.

nri

Ụzọ ndụ nke ndị ọrịa a, na mgbakwunye na ọgwụ na ahụ ike na usoro, ruo mgbe ebighị ebi metụtara na a kpọmkwem na-eri. Nke a kwesịrị elu-kalori menu dabeere na-edozi na abụba ntabi. Diet na nke a ga-nkejikotara 150% site calorie nri nkịtị ụmụ afọ. Nke a dị mkpa karịsịa ka ọrịa na iri percent underweight. E wezụga ngwaahịa, pụrụ iche ike mee: ọgwụgwọ ngwakọta dabeere na Bovine edozi (ma ọ bụrụ na ugbu anataghi, mgbe synthesized). A choro iji na-eduzi a vitamin, n'ihi na nke ugboro ugboro afọ ọsịsa mkpa bekee na-ngwa ngwa na-asa nke ahu.

amụma

Ma amụma, ya niile na-adabere na adequacy nke ọgwụgwọ na ụzọ ndụ nke ọrịa dị ka nke ọma dị ka ogo nke ọrịa. Na oké ikpe, na ụmụaka na-na o siri ike ndụ ruo 7 afọ, na adịghị kwa oké - ruo iri abụọ ma ọ bụ karịa.