Pearson syndrome: Iimpawu and Treatment

Pearson kaThixo syndrome - oku sisifo yemfuza ezinqabileyo kakhulu ukuba esizibonakalisa ebuntwaneni, kwaye kwiimeko ezininzi ekhokelela ekufeni ekuqaleni.

History of izovela

Elinye igama le Pearson kaThixo syndrome - naso anemia sideroblastic kunye insufficiency exocrine pancreatic. Isifo ithiywe emva njengesazinzulu kuqala wayichaza ngo-1979 - N. A. Pirsona. Esi sifo kuye kwaqatshelwa ubonwa elide kubantwana abane ezineempawu ezifanayo: egcine anemia sideroblastic, nto leyo isabele kunyango umgangatho, ukunqongophala umsebenzi exocrine pancreatic kunye kwegazi kweeseli umongo wethambo.

Ekuqaleni, abantwana ufake diagnosis eyahlukileyo - Shvahmana syndrome (hypoplasia naso zepancreas). Kodwa emva kokuhlola igazi kunye bone Nomongo ezi afunyanwa umahluko ocacileyo, nto leyo enika ithuba ukuqaqambisa syndrome Pearson njengoko isigaba esahlukileyo.

Izinto ezibangela izifo

Uphando ezibangela esi sifo wathabatha malunga neshumi leminyaka. Oogqirha zofuzo bakwazi ukufumana siphene yemfuza esa iyantlukwano phindo lwe-DNA ayo.

Nangona esi sifo yemfuza, ngokuqhelekileyo ukuguquka livela ngumdla, kwaye usana isigulane abazalwa abazali uphilile. Maxa wambi kukho unxulumano phakathi ubukho isifo amehlo unina kunye nophuhliso Pearson engqondweni xa umntwana wakhe.

iziphene yeDNA ukutyhilwa umongo, atsinotsitah injeke, kwakunye namaziko ezo nto kujoliswe isifo - kidney, izihlunu intliziyo, hepatocytes. Kwelinye icala, ezinye izigulane phambi zoqobo picture zonyango kunye zaselebhu ayikwazanga ukubhalisa utshintsho DNA ayo.

abantwana abagulayo ngokuya nokwanda intsimbi esibindini, sclerosis glomerular, sezintso cyst ukwakhiwa. Kwezinye iimeko, ephuhlisa abanesigulo engabalulekanga, nto leyo ekhokelela ukusilela intliziyo.

Le injeke likhipha Imali elingonelanga lipase, amylase kunye yesoda kuzo zonke izigulane kunye nesifo Pearson. Yoma syndrome kubonakala nobubovu inyama kunye abanesigulo kwayo okwalandela.

iindlela isifo

Ngokuzithemba Uxilongo kuphela yemfuza oogqirha emva kokuhlola DNA ayo. Indima ebalulekileyo eyadlalwa uhlalutyo eqhelekileyo igazi yoluvo: ukuchonga macrocytic yayinzima anaemia, neutropenia kunye thrombocytopenia. Woku kukungabikho isiphumo sonyango kwegazi "cyanocobalamin" kunye amalungiselelo zentsimbi.

Ngenxa ithambo lomongo okuhlatywa ungabona kukuhla kwenani lilonke iiseli, ubukho vacuoles kwinkangeleko erythroblasts kunye sideroblasts engqongwe.

zesifo sifo

Ukususela kwimihla yokuqala yobomi umntwana kurhanelwa Pearson engqondweni. Iimpawu ze bt sifo lulolu hlobo igazi amanyala, yaye insulin-oxhomekeke seswekile. Waphawula isikhumba lipholi, ukozela, silale, urhudo, ukugabha nezolo, umntwana akukho ukuzuza ubunzima. Ukutya phantse kwelifunekayo, esibonakala steatorrhea. Kukho iimpawu seswekile, kumanqanaba iswekile yegazi, kwaye kukho umkhwa ukuba ne-asidi eninzi. Mhlawumbi uphuhliso hepatic, kwezintso kunye ukusilela intliziyo.

Ngamanye amaxesha ukongeza anaemia, pancytopenia kwenzeka (intsilelo kuphela erythrocytes kodwa leukocytes neeplatelets), nto leyo eya kuba anento ukopha kunye nosulelo yenxalenye attachment.

Treatment nabanye abantu abane

Ngelishwa, oogqirha namanje abazi indlela yokoyisa lo Pearson syndrome. Unyango of non-ngqo kwaye inika kuphela iziphumo zexesha elifutshane.

Anaemia ayikho efanele unyango ibhanile, ifuna ukutofelwa igazi rhoqo. Kuba ukuphucula imisebenzi pancreatic emiselweyo ulwamkelo enzyme, kunye nokulungiswa ukungaqheleki pathways - therapy ukumnika. Kwiimeko ezinqabe esinye umongo wethambo.

Pearson engqondweni has a ALS ihlwempu: Abantwana barhuqe emva kuphuhliso ngokwasemzimbeni, inkoliso sife phambi kweminyaka emibini. Kwiimeko ezinqabe kakhulu, izigulane baphila Bulelani elide kuthomalaliso yesondlo ngempumelelo, kodwa kamva ebomini kokugula kukhokelela izihlunu yoma uphawu le syndrome Kearns-Sayre.

Ubungqongqo sifo kuxhomekeke kakhulu iqondo izilonda DNA.