| Abstract | Poremećaji metabolizma purina i pirimidina heterogena su skupina bolesti nastalih zbog smanjene ili pojačane aktivnosti enzima u metabolizmu purina i pirimidina. Većina bolesti se nasljeđuje autosomno recesivno, s iznimkom nekolicine poremećaja koji se nasljeđuju X-vezano ili autosomno dominantno. Moguće su i novonastale (de novo) mutacije i posljedični razvoj bolesti. Od 1954. godine kada je opisan prvi poremećaj metabolizma purina, ksantinurija, do danas je poznato više od trideset poremećaja. Većina poremećaja je vrlo rijetka. Očituju se nespecifičnom kliničkom slikom, od asimptomatskih do životno ugrožavajućih stanja.
Purini i pirimidini su molekule biološki važne za rad svih stanica te se poremećaji njihovog metabolizma mogu očitovati u bilo kojem organskom sustavu. Najčešće su zahvaćeni neurološki, hematološki, imunosni, mokraćni i muskuloskeletni sustav. Često se smatraju poremećajima koji se javljaju samo u dječjoj dobi, međutim sve se češće otkrivaju i u odrasloj dobi, a razvoj prvih simptoma je moguć u svim dobnim skupinama. Poremećaji purina i pirimidina često ostanu klinički neprepoznati i nedijagnosticirani zbog raznovrsnosti kliničke slike, nedovoljne osviještenosti zdravstvenih djelatnika i zbog dijagnostičkih izazova. Naime, krajnji produkti i metaboliti nastali u reakcijama razgradnje purina i pirimidina zahtijevaju složene metode laboratorijske dijagnostike zbog čega ove pretrage nisu široko dostupne.
Trenutne terapijske mogućnosti su ograničene. Manji broj poremećaja je moguće uspješno liječiti, za neke poremećaje je terapija u fazi istraživanja, a za neke za sada ne postoji mogućnost liječenja. Podizanje svijesti o poremećajima purina i pirimidina, kao i o drugim rijetkim bolestima, otvara mogućnost boljeg prepoznavanja i dijagnosticiranja ovih bolesti te adekvatnog zbrinjavanja pacijenata. |
| Abstract (english) | Disorders of purine and pyrimidine metabolism are a heterogeneous group of diseases caused by reduced or increased activity of enzymes in purine and pyrimidine metabolism. Most diseases are inherited in an autosomal recessive manner, except for a few disorders that are inherited in an X-linked or autosomal dominant manner. Novel (de novo) mutations and the consequent development of the disease are also possible. Since 1954, when the first disorder of purine metabolism, xanthinuria, was described, more than thirty disorders have been identified to date. Most disorders are rare. They are manifested by a non-specific clinical picture, from asymptomatic to life-threatening conditions.
Purines and pyrimidines are biologically significant molecules for the function of all cells, and disorders of their metabolism can manifest in any organic system. The neurological, hematological, immunological, urinary, and musculoskeletal systems are most often affected. They are often considered to be disorders that occur only in childhood but are increasingly being detected in adulthood, and the development of the first symptoms is possible in all age groups. Purine and pyrimidine disorders often remain clinically unrecognized and undiagnosed due to the diversity of the clinical picture, insufficient awareness of healthcare professionals, and diagnostic challenges. Namely, the end products and metabolites formed in purine and pyrimidine decomposition reactions require complex methods of laboratory diagnostics, which is why these tests are not widely available.
Current therapeutic options are limited. A smaller number of disorders can be successfully treated. For some disorders, therapy is in the research phase, and for some, there is currently no possibility of treatment. Raising awareness of purine and pyrimidine disorders, as well as other rare diseases, opens up the possibility of better recognition and diagnosis of these diseases and adequate patient care. |
