Refraktarna mikrocitna hipokromna anemija

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1 Refraktarna mikrocitna hipokromna anemija Klinični oddelek za hematologijo, onkologijo in transplantacijo krvotvornih matičnih celic Pediatrična klinika UKC Ljubljana Simona Avčin, Maruša Debeljak, Janez Jazbec

2 Klinični primer 7-mesečna deklica z naključno ugotovljeno mikrocitno hipokromno anemijo Laboratorijski testi: mikrocitna hipokromna anemija znižano serumsko železo, nasičenost transferina in fertitin zvišani serumski protoporfirini Anemija zaradi pomanjkanja železa Neodzivna na zdravljenje s peroralnim železovim preparatom

3 Diagnostična obravnava Razširjena diagnostična obravnava v predšolskem obdobju: izključeni ostali vzroki mikrocitnih anemij 2x aspiracijska biopsija kostnega mozga normalni funkcijski laboratorijski testi prebavil & jetrne funkcije ter endoskopija prebavnega trakta Klinično deklica brez večjih težav Normalen psihomotorni in pubertetni razvoj Anemija ostane nepojasnjena

4 Prvi znaki... V starosti 8 let ob kontrolnem UZ srca znaki dilatacije LV z mejno sistolno funkcijo, brez kliničnih simptomov Ukrep: prva eritrocitna transfuzija => delna rekonstitucija funkcije LV Sklep: eritrocitna transfuzija ob nadaljnih padcih Hb pod 100 g/l

5 Nadaljne zdravljenje... Korekcija Hb med posameznimi transfuzijami bistveno daljša, kot bi bilo razložljivo z življenjsko dobo eritrocita V vmesnem času občasna utrujenost, vrtoglavica, glavoboli Funkcija LV: znaki spongiformne kardiomiopatije z dilatacijo LV; uvedena ACE inhibitor in spironolakton, nato normalne dimenzije in funkcija srčnih votlin

6 Po etiološki razjasnitvi... V starosti 16 let ugotovljeni dve homozigotni mutaciji gena TMPRSS6 za matriptazo-2 IRIDA-iron deficiency iron refractory anemia Namesto transfuzijskega zdravljenja=> zdravljenje s parenteralnim železovim preparatom, ob tem zadovoljiv odgovor z doseženo povprečno stabilno vrednostjo Hb g/l

7 IRIDA-iron deficiency iron refractory anemia gen TMPRSS6 kodira matriptazo-2 Serinska proteaza, ki normalno zmanjšuje nastajanje hepcidina ob pomanjkanju železa Mikrocitna hipokromna anemija, znižana nasičenost transferina in... Hepcidin normalen ali zvišan glede na referenčno vrednost, a neobičajno visok glede na pomanjkanje železa Homozigotna mutacija v genu TMPRSS6: hereditarna anemija zaradi pomanjkanja železa, refraktarna na zdravljenje s peroralnim železom

8 Mehanizem delovanja hepcidina Hepcidin: glavna regulatorna beljakovina intestinalne absorpcije železa sproščanja/kopičenja zalog iz makrofagov in hepatocitov neposredno uravnava koncentracijo serumskega železa serumski nivo odvisen od železovih rezerv, vnetja, hipoksije Vir: Human Gene Tied to Rare Iron-deficiency Disorder, E.Dougherty, 2008

9 Mehanizem uravanjavanja na celičnem nivoju Vir: de Falco et al, Haematologica, 2009,98 (6); Iron refarctory iron deficiency anemia

10 Matriptaza-2 Transmembranska serinska proteaza tipa II, na hepatocitih Homozigotna mutacija v genu TMPRSS6: hereditarna anemija zaradi pomanjkanja železa, refraktarna na zdravljenje s peroralnim železom Znanih 40 mutacij gena TMPRSS6, večinoma v transmembranskem delu proteina Pri naši pacientki: dve homozigotni mutaciji; na eksonu 2; Leu62Met v transmembranskem delu intronska; izguba celotnega eksona 9 iz končnega transkripta

11 Hypothetical mechanism of TMPRSS6 function related to the main hepcidin activation pathway represented by BMP, BPM receptors (BMPR) and HJV. Wild type TMPRSS6 location on the plasma membrane is indicated by the scissors (open in iron deficiency) on the left. Clara Camaschella, and Laura Silvestri Haematologica 2008;93: by Ferrata Storti Foundation

12 Matriptase-2 gene structure and locations of IRIDA mutations. Andrew J. Ramsay et al. Haematologica 2009;94: by Ferrata Storti Foundation

13 Hematologic parameters of Tmprss6 / mice, mask mice and IRIDA patients. Andrew J. Ramsay et al. Haematologica 2009;94: by Ferrata Storti Foundation

14 Hvala za pozornost! Literatura: de Falco et al., Haematologica, 2009,98 (6); Iron refractory iron deficiency anemia AJ. Ramsay et al., Haematologica 2009;94: ; Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis M Knutson et al., Nut Rev, 2009; 67(5); Into the matrix: regulation of the iron regulatory hormone hepcidin by matriptase-2

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