Pearson syndrome: Izimpawu kanye Ukwelashwa

Pearson Syndrome - lena ivelakancane isifo esidluliselwa ngofuzo kuzibonakalisa esewusana, futhi ezimweni eziningi kuholela ekufeni ekuseni.

Umlando yokutholakala

Enye igama Pearson Syndrome - azalwa naso isifo sokulahlekelwa igazi sideroblastic nge exocrine esingamahlalakhona pancreatic. Lesi sifo sethiwa owaqamba owokuqala owachaza lesi sifo ngo-1979 - N. A. Pirsona. Lesi sifo ubelokhu eqashelwa ngokubhekisisa eside izingane ezine nge nezimpawu ezifanayo: abakubona anaemia sideroblastic, okuyinto bungahambisani yokwelapha esezingeni, ukuntuleka exocrine umsebenzi pancreatic pathology ka umnkantsha amaseli.

Ekuqaleni, abantwana ukubeka ukuxilongwa ezahlukene - Shvahmana syndrome (hypoplasia azalwa naso kwamanyikwe). Kodwa ngemva kokuhlola igazi umnkantsha kuthiwa okusobala atholakele, okwakunginika isikhathi ukugqamisa Pearson Syndrome njengoba wodwana.

Izimbangela isifo

Ukucwaninga okuye kwenziwa izimbangela zesifo Kwaphela iminyaka eyishumi. Odokotela zofuzo bakwazi ukuthola isici zofuzo kuholela kuhlukaniswa ukuphindaphindeka DNA mitochondrial.

Nakuba lesi sifo zofuzo, ngokuvamile kuguquka livela angesabi, futhi ingane isiguli uzalwa abazali ephelele. Ngezinye izikhathi kukhona ubudlelwano phakathi khona isifo samehlo komama kanye nokuthuthukiswa Pearson Syndrome e umntanakhe.

ukukhubazeka DNA kungenziwa kwembulwe umnkantsha, atsinotsitah amanyikwe, kanye izitho ezingesiyo ilitshe oyinhloko sifo - izinso, senhliziyo esilimele, hepatocytes. Ngakolunye uhlangothi, ezinye iziguli ebukhoneni ejwayelekile emitholampilo laboratory isithombe futhi ehluleka ukubhalisa izinguquko DNA mitochondrial.

Izingane ezigulayo uya yensimbi sokuzuza kwesibindi, ukusha kwesibindi glomerular, kwezinso simila kumiswa. Kwezinye izimo, it is asathuthuka cystic esivimba amanzi, okuholela yokumelwa yinhliziyo.

Kwamanyikwe bukhipha lemali obanele of lipase, Amylase futhi Bicarbonate zonke iziguli sifo Pearson. Yoma syndrome ububonisa indlala kwezicubu cystic kwalo okwalandela.

izindlela ukuxilongwa

Ngokukhulu ukuzethemba uphethwe can zofuzo kuphela odokotela ngemva kokuhlola DNA mitochondrial. I indima ebalulekile eyadlalwa ukuhlaziywa evamile wegazi neuropathy: ukukhomba macrocytic ezinzima kwegazi, neutropenia futhi thrombocytopenia. Okuphawulekayo kuyinto engekho umphumela ekwelapheni isifo sokulahlekelwa igazi "cyanocobalamin" nensimbi amalungiselelo.

Ngenxa umnkantsha wokubhoboza ungabona ukwehla isamba samasosha omzimba, khona vacuoles ekubukekeni erythroblasts futhi sideroblasts ringed.

izimpawu isifo

Kusukela ezinsukwini zokuqala impilo yengane esolwa Pearson Syndrome. Izimpawu ze-DEBUT isifo ezinsaneni ngesimo anaemia eziyingozi, nesifo sikashukela insulini nasekuthengeni. ISidlo isikhumba ugodo, ukozela, ukucobeka, uhudo, ukuhlanza yansukuzonke, umntwana usuke engakabi ikhula ngesisindo. Ukudla cishe hhayi ugxile, libhekene steatorrhea. Kukhona izimpawu zesifo sikashukela, anda amazinga igazi glucose, futhi kukhona ukuthambekela lactic. Mhlawumbe ukuthuthukiswa hepatic, kwezinso futhi senhliziyo.

Ngezinye izikhathi ngaphezu kwegazi, pancytopenia kwenzeka (kusilela hhayi kuphela erythrocyte kodwa futhi leukocyte nezinhlayiya zegazi), okuzodingeka ukuthambekela ukopha kanye nezifo wesabelo okunamathiselwe.

Ukwelashwa futhi Izibikezelo

Ngeshwa, odokotela namanje angazi kanjani ukuthi iwine Pearson syndrome. Ukwelashwa nokuvikelwa non-ethize futhi inikeza kuphela imiphumela yesikhashana.

Isifo sokulahlekelwa yigazi hhayi amenable yokwelapha ejwayelekile, futhi zidinga ukumpontshelwa igazi njalo. Ukuze ekuthuthukiseni imisebenzi pancreatic ebekiwe reception enzyme, kanye nokulungiswa kwezinso umzimba - yokwelapha ukumnika. Ezimweni ezingavamile ukufakelwa umnkantsha.

Pearson Syndrome has a Izibikezelo mpofu izingane zisale ngemuva ekuthuthukisweni ngokomzimba, iningi afe ngaphambi kweminyaka emibili. Ezimweni ezingavamile, iziguli siphila sibonga isikhathi eside ngempumelelo yokwelapha yesondlo, kodwa kamuva ekuguleni ukuphila kuholela imisipha yoma sici syndrome Kearns-Sayre.

Kobukhulu isifo kuxhomeke kakhulu degree of izilonda DNA.