Author/Editor		Mlakar, Uroš
Title		Paroksizmalna nočna hemoglobinurija po aplastični anemiji - prikaz primera
Translated title		Paroxysmal noctural haemoglobinuria emerging after aplastic anaemia - case report
Type		članek
Source		Med Razgl
Vol. and No.		Letnik 39, št. Suppl 5
Publication year		2000
Volume		str. 179-83
Language		slo
Abstract		Background. Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired clonal haematopoietic stem cell disorder characterised by intravascular haemolysis, bone marrow failu- re and increased tendency to thrombosis. Due to mutation of the PIG-A gene, abnormal blood cells lack a series of glycosylphosphatidyl inositol-anchored proteins, which results in complement mediated haemolysis. The coexistence of bone marrow failure that paradoxically produces growth advantage for the PNH clone explains the close association between PNH and aplastic anaemia. Methods, results. A 24-year old male patient was found to have severe aplastic anaemia. He was treated with antithymocyte globulin, cyclosporine A and glucocorticoids. In parallel with a clinical and haematological improvement of aplastic anaemia, attacks of abdominal pain occurred. In one of such episodes when abdominal pain was accompanied by massive intravascular haemolysis, the diagnosis of PNH was established by the positive Ham test. The treatment was symptomatic. Because of the risk of thrombotic complication the patient is on antithrombotic prophylaxis with low-molecular weight heparin. Conclusions. Due to the variability of the symptoms at presentation and its rarity, PNH is frequently diagnosed after considerable delay. The diagnosis of PNH is made using the Ham test or flow cytometry. The diagnostic test should be obtained in patients with unexplained haemolytic anaemia, cytopenias and aplastic anaemia, venous thromboses and recurrent bouts of abdominal pain.
Summary		Izhodišča. Paroksizmalna nočna hemoglobinurija (PNH) je pridobljena klonska bolezen krvotvornih matičnih celic. Klinična slika je posledica intravaskularne hemolize, odpovedi kostnega mozga in nagnjenosti k venskim trombozam. Zaradi mutacije gena PIG-A na prizadetih celicah ni beljakovin, ki so na membrano pritrjene s pomočjo glikozilfosfatidilinozitola. Posledica je povečana dovzetnost za hemolitični učinek komplementa. Šele sočasna prisotnost dejavnikov, ki povzročijo odpoved kostnega mozga, omogoči rastno prednost in razrast klona PNH. S tem si tudi razlagamo povezavo med PNH in aplastično anemijo. Prikaz bolnika. Pri 24-letnem bolniku so odkrili hudo aplastično anemijo. Bolnika so zdravili s antitimocitnim globulinom, ciklosporinom A in glukokortikoidi. Vzporedno z izboljšanjem krvne slike so se pojavili napadi bolečin v trebuhu. Ob enem takih napadov, ki ga je spremljala tudi obsežna intravaskularna hemoliza, so s Hamovim testom ugotovili PNH. Izvajali so simptomatsko zdravljenje. Zaradi velikega tveganja za trombotične zaplete prejema bolnik tudi zaščito z nizkomolekularnim heparinom. Zaključki. Zaradi svoje redkosti in spremenljive klinične slike je PNH pogosto ugotovljena z zakasnitvijo. Diagnozo PNH potrdimo s Hamovim testom ali s pomočjo pretočne citometrije. To preiskavo napravimo pri nepojasnjeni hemolitični anemiji, nepojasnjenih citopenijah in aplastični anemiji, nepojasnjenih venskih trombozah in pri ponavljajočih se napadih bolečin v trebuhu.
Descriptors		ANEMIA, APLASTIC HEMOGLOBINURIA, PAROXYSMAL ADULT