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Medicina
Croatian Medical Association - Rijeka branch
ISSN: 0025-7729
Vol. 45, No. 1, 2009, pp. 22-37
Bioline Code: me09003
Full paper language: Croatian
Document type: Review Article
Document available free of charge

Medicina, Vol. 45, No. 1, 2009, pp. 22-37

 hr Elektroničke baze podataka humanih genetičkih poremećaja: osnove diferencijalne dijagnostike u kliničkoj genetici
Pereza, Nina; Zergollern-Čupak, Ljiljana & Ostojić, Saša


Kongenitalne anomalije zahvaćaju 3 – 5 % sve novorođene djece, te čine značajan postotak morbiditeta i mortaliteta u prenatalnom razdoblju i dojenačkoj dobi. Iako bolesnik s multiplim kongenitalnim anomalijama predstavlja dijagnostički izazov za pedijatre i kliničke genetičare, nužno je prepoznati specifične kombinacije kliničkih znakova, simptoma ili obrazaca ponašanja, koji bi upućivali na dijagnozu genetičkog poremećaja. Sve veći broj genetičkih poremećaja (više od 6.000 opisanih) s još većim brojem opisanih specifičnih kombinacija kliničkih obilježja doveo je do pokušaja njihovog sistematiziranja u baze podataka koje na jednom mjestu okupljaju relevantne informacije o svim poznatim genetičkim poremećajima. Elektroničke genetičke baze podataka zbog svoje su sveobuhvatnosti i jednostavnosti korištenja izvrstan medij za edukaciju iz kliničke genetike, ali i neizostavan dio svakodnevnog rada u kojem služe kao pomoć pri evaluaciji bolesnika i postavljanju ispravne diferencijalne dijagnoze malformacijskih sindroma i genetičkih poremećaja općenito. Klinička genetika je umjetnost i vještina vizualnog prepoznavanja i uspoređivanja obilježja; dijagnoza genetičkog poremećaja uvijek je zahtjevan, a ponekad i dugotrajan proces u kojem genetičke baze podataka mogu znatno pomoći. Iako sve baze podataka omogućuju pretraživanje po kliničkim obilježjima (simptomima i znakovima), odnosno njihovim kombinacijama, čime se dobiva ispis najizglednijih genetičkih poremećaja, dobiveni popis samo je prvi korak u dijagnostičkom procesu, te zahtijeva daljnje proučavanje medicinski relevantne literature, kao i ponovne preglede djeteta kada se ciljano traže specifična obilježja i dodatna klinička obrada.


dismorfologija, genetički poremećaj, kongenitalne anomalije, medicinska genetika, OMIM, Orphanet

 
 en Electronic Databases of Human Genetic Disorders: The Fundamentals of Differential Diagnosis in Clinical Genetics
Pereza, Nina; Zergollern-Čupak, Ljiljana & Ostojić, Saša

Abstract

Congenital anomalies occur in 3-5 % of all newborn children and represent a significant part of prenatal and infant mortality and morbidity. Although patients with multiple congenital anomalies represent a diagnostic challenge for pediatricians and clinical geneticists, it is necessary to recognize specific combinations of clinical signs, simptoms and behaviour patterns which leads to the diagnosis of a genetic disorder. The constantly increasing number of genetic disorders (over 6.000 described) with an even larger number of specific combinations of clinical features has led to an attempt of systematization of all known genetic disorders into several genetic databases. The comprehensiveness and simple organization of electronic genetic databases makes them an exceptional educational media for the training of clinical genetics and an inevitable part of everyday work in clinical genetics where they are used in the evaluation of patients and establishment of proper differential diagnosis of malformation syndromes and genetic diseases in general. Clinical genetics is a combination of art and skills in visual recognition and comparison of features, and the diagnosis of a genetic disorder is always a demanding and sometimes a time-consuming process where genetic databases can be of significant help. However, although all genetic databases can be searched according to clinical features and their specific combinations which will provide a list of the most likely syndromes, the obtained list of disorders is only a first step in the diagnostic process and demands further investigation of medically relevant literature, as well as repeated examinations of the patient when specific features an additional analyses are sought.

Keywords
congenital anomalies, dysmorphology, genetic disorders, medical genetics, OMIM, Orphanet

 
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