Pearson maʻi pale: Symptoms a me ka iapaau ana

Pearson ka maʻi pale - keia mea he loa pohihihi keia aaiaoe maʻi i hoike mai ai ia ia iho i ka wā kamaliʻi, a me ka hapanui manawa hiki aku ai i ka make koke.

Mōʻaukala o ka Kaka

Kekahi inoa no ka Pearson ka maʻi pale - he congenital sideroblastic anaemia me exocrine pancreatic insufficiency. I ka maʻi ua kapaʻia ma hope o ke nä känaka 'epekema, e hōʻike ana mua ia i loko o 1979 - N. A. Pirsona. Ka maʻi pale Ua ike ma lōʻihi kilo me ka like symptoms o ka eha keiki: ka mea, malama sideroblastic anaemia, i mea ole pane maʻalahi i ka maʻamau lapaʻau, no ka nele o exocrine pancreatic hana a me ka pathology o ka iwi lolo keena.

Ma mua, i nā keiki i ka 'okoʻa loaʻike, - Shvahmana maʻi pale (congenital hypoplasia o ka pancreas). Akā, ma hope nana i ke koko a me ka iwi ka lolo ka mea, i loaʻa maopopo oko ao, a haawi aku i ka manawa maopopo, e kahińuli Pearson ka maʻi pale i hookaawale waeʻano like.

Nā kumu o ka maʻi

Research i loko o nā kumu o ka maʻi i kahi o umi makahiki. ua hiki ke 'imi i ka aaiaoe kina i hiki aku ai i ka mahele a me ka duplication o ka mitochondrial DNA kauka geneticists.

ʻOiai ka maʻi mea aaiaoe, IeAUPIIe, IAa IO mutationʻikea spontaneously, a ua hanau ka hoʻomanawanui pēpē i ka pono ola makua. I kekahi manawa, aia no i ka pilina ma waena o ke alo o ka maka mai i loko o ka makuahine, a me ka hooulu ana o Pearson ka maʻi pale ma kona keiki.

DNA mā hiki ke hoikeia mai i loko o ka iwi lolo, atsinotsitah pancreas, e like me nā loko i mea ole na kumu nui ka pale kaua o ka maʻi - hakuʻala, naau Muscle, hepatocytes. Ma ka kekahi lima, kekahi nā mea maʻi i loko o ka alo ana o typical lapaʻau, a keʻena hoʻokolohua kiʻi, a 'aʻole e? Aaeno loli ma ka mitochondrial DNA.

Maʻi keiki e hele hao hoʻomāhuahua i loko o ke akepaa, glomerular sclerosis,ʻaʻa puʻuwai cyst ho okumu. Ma kekahi mau hihia, ka mea, ua ulu myocardial fibrosis, a hiki aku i ka naʻau ole.

Ke pancreas malū lawa ka nui o ka lipase, amylase a me ka bicarbonate i loko o nā mea maʻi a pau me ka maʻi Pearson. Atrophy maʻi pale hoike mai ai ia gland'aʻaʻa a me kona mahope fibrosis.

ki ina hana like o kaʻike,

Me ka maopopo kuu manao iʻike, e hiki wale aaiaoe? Kauka ma hope nana i ka mitochondrial DNA. Ka nui a Mānoa hoʻokani ma ka mau Ikepili o kaʻike ākea koko: kuhikuhi macrocytic loa anaemia, neutropenia a me ka thrombocytopenia. Kaulana o ka wa e kaawale aku o ke kanawai o ka iapaau ana o ka anaemia "cyanocobalamin" a me ka hao hoomakaukau.

Ma muli o ka iwi lolo puncture ke ike i ka emi ana o ka huina helu o nā keena, i ke alo o vacuoles ma keʻano o nā erythroblasts a me ke komo lima o sideroblasts.

maʻi symptoms

Mai ka lā mua o ke ola i ke keiki ua kēia Pearson ka maʻi pale. Symptoms o ka maʻi i loko o Debut keiki i loko o ka palapala o pernicious anaemia, a me ka insulina-e kaukaʻi mimikō. Malama haikea ili, drowsiness, lethargy, diarrhea, recurrent ka luaʻi, ke keiki ua e ho onui ana ke kaumaha. Ke ai ua kokoke i ke kemu, wehewehe aku ma ka steatorrhea. Aia mau symptoms o mimikō, mahuahua koko monakō koko pae, a he mea i ka welelau o ka acidosis. Paha i ka hooulu ana o ka hepatic,ʻaʻa puʻuwai a me ka naʻau 'ole.

I kekahi manawa, i hou i ka anaemia, pancytopenia ia lŘlŘ (nele erythrocytes ole wale akā, i leukocytes a me platelets), a e i ka welelau o ke kahe ana ke koko a me nā mea palahēhē o ka IeIIeYOA hapa.

Lapaau a me ka prognosis

Eia naʻe, kauka nō mai i ike pehea e loaa i ka Pearson maʻi pale. Hana maikaʻiʻole o ka ole-papa a me ka mea ua 'oi wale pōkole-manawa i nā hualoaʻa.

Anemia mea ole amenable i ka maʻamau Inc, a koi pinepine koko transfusions. No ka hoʻomaikaʻi pancreatic oihana i hoakakaia? Eaia nā'ūhū, a no? Iaea o metabolic abnormalities - infusion Inc. Ma pohihihi keia hihia i kekahi iwi lolo transplant.

Pearson ka maʻi pale mai i ka poe ilihune prognosis: keiki lag hope ma physical kūpono 'ana, ka hapanui make mua elua makahiki. Ma pohihihi keia hoopii, nā mea maʻi e noho hou i ke aloha i ka hoʻokō hoomau Inc, akā, ma hope ma ke ola maʻi hiki aku ai i ka Muscle atrophy ano o ka maʻi pale Kearns-Sayre.

Ke oolea o ka maʻi hilinaʻi nui pili kēia ma luna o ka degere o ka DNA lesions.