| Abstract | Multipli mijelom aktivna je zloćudna bolest plazma stanica s izraženim oštećenjima drugih organa za razliku od stanja koje mu
prethode, monoklonske gamapatije neodređenog značaja i šuljajućeg mijeloma. Dolazi do stvaranja malignog klona plazma stanica koje sintetiziraju monoklonski imunoglobulin. Zbog njegovog nakupljanja, i potiskivanja funkcionalnih imunoglobulina, dolazi do najčešćih simptoma bolesti poput bolova u kostima, čestih infekcija, anemija, bubrežnog zatajenja i dr. Bolest je nepoznate etiologije, ali se pretpostavlja da joj pridonose genska predispozicija, izloženost zračenju i utjecaj okoliša. Druga je najčešća hematoonkološka bolest koja više zahvaća crnu nego bijelu rasu te više muškaraca od žena. Bolest se najčešće javlja između 65. i 72. godine života. Multipli mijelom neizlječiva je bolest, ali uz pomoć novih lijekova i autologne transplatacije matičnih stanica, postiže se puno dulje preživljenje i remisija bolesti. Laboratorijskim testovima dokazuju se monoklonski proteini, određuje se njihov tip te se kvantificiraju. Time se postavlja dijagnoza i prati uspješnost terapije. Elektroforeza serumskih proteina probirni je test za dokazivanje postojanja monoklonskog vrška. Određivanje slobodnih lakih lanaca u serumu probirni je test u kombinaciji s elektroforezom serumskih proteina i koristi se za praćenje bolesti te praćenje stanja nakon transplantacije koštane srži.
Imunofiksacijskom elektroforezom proteina klasicira se M-proteina. To je potvrdni test monoklonalnosti na temelju kojeg se može
donijeti diferencijalna dijagnoza mono-, bi- i triklonalnih gamapatija. Također, tim se testom provjerava relaps bolesti nakon
transplantacije koštane srži. Nalazi pacijenata s multiplim mijelomom često ukazuju na povišene koncentracije ukupnih proteina i
gama globulina, a koncentracija albumina je snižena. Uz to je sedimentacija eritrocita, kao biljeg upale i malignog procesa, ali i
viskoznosti krvi, ubrzana. Povišeni β-2-mikroglobulin loš je prognostički biljeg isto kao i hiperkalcijemija do koje dolazi zbog
osteolize u već uznapredovaloj bolesti. Cilj ovog diplomskog rada bio je prikazati mogućnosti biokemijskih metoda u dijagnostici
monoklonskih proteina kod sumnje na plazmastaničnu diskraziju. Koristeći se metodom kapilarne elektroforeze serumskih proteina monoklonski su vršci dokazani u 3 od 4 bolesnice, imunofiksacijom su potvrđeni tipovi monoklonskih proteina, a
imunoturbidimetrijom su kvantificirani. Navedene metode pomogle su u postavljanju dijagnoze i profiliranju fenotipa bolesti što je
preduvjet za daljnje liječenje. |
| Abstract (english) | Multiple myeloma is an active malignant disease of plasma cells characterized by significant damage to other organs,
unlike its preceding conditions, monoclonal gammopathy of undetermined significance and smoldering myeloma.
The disease involves the formation of a malignant clone of plasma cells that synthesize monoclonal
immunoglobulin. Due to its accumulation and suppression of functional immunoglobulins, the most common
symptoms of the disease arise, such as bone pain, frequent infections, anemia, kidney failure, and others. The disease
has an unknown etiology, but it is believed that genetic predisposition, exposure to radiation, and environmental
factors contribute to it. It is the second most common hematologic malignancy, affecting Black people more than
White people, and men more than women. The disease most often occurs between the ages of 65 and 72. Multiple
myeloma is an incurable disease, but with the help of new drugs and autologous stem cell transplantation, much
longer survival and disease remission can be achieved. Laboratory tests detect monoclonal proteins, determine their
type, and quantify them. This establishes the diagnosis and monitors the effectiveness of therapy. Serum protein
electrophoresis is a screening test used to detect the presence of a monoclonal spike. The determination of free light
chains in serum is a screening test combined with serum protein electrophoresis, used for monitoring the disease
and post-bone marrow transplantation status. Immunofixation electrophoresis of proteins classifies the M-protein.
This is a confirmatory test for monoclonality, based on which a differential diagnosis of mono-, bi-, and triclonal
gammopathies can be made. Additionally, this test checks for relapse of the disease after bone marrow
transplantation. The laboratory findings of patients with multiple myeloma often indicate elevated levels of total
proteins and gamma globulins, while albumin concentration is reduced. Moreover, erythrocyte sedimentation rate
(as a marker of inflammation and malignant processes, but also blood viscosity) is accelerated. Elevated β-2-
microglobulin is a poor prognostic marker, as is hypercalcemia, which occurs due to osteolysis in advanced stages
of the disease. The aim of this thesis was to present the possibilities of biochemical methods in the diagnosis of
monoclonal proteins in suspected plasma cell dyscrasias. Using the method of capillary serum protein
electrophoresis, monoclonal spikes were detected in 3 out of 4 female patients, the types of monoclonal proteins
were confirmed by immunofixation, and they were quantified by immunoturbidimetry. These methods helped
establish the diagnosis and profile the disease phenotype, which is a prerequisite for further treatment. |
