Naslov
ANGIOTENSIN-CONVETING ENZYME (ACE) GENE POLYMORPHISM IN ENDEMIC NEPHROPATHY (EN) PATIENTS

Autori
Jelaković, Bojan ; Čvorišćec, Dubravka ; Sertić, Jadranka ; Leko, N. ; Kuzmanić, Duško ; Boršo, Gordana ; Laganović, Mario ; Barišić, I. ; Čeović, Stjepan

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Cardionephrology / Timio, Mario ; Wizmann, Volker ; Venanzi, Sandro - Asiz : Editoriale bios, 1999, 21-23

Skup
7th Assisi European Meeting on Cardionephrology

Mjesto i datum
Assisi, Italija, 15.04.1999. - 17.04.1999

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
ace gene polymorphism; endemic nephropathy

Sažetak
The aim of the study was to investigate the polymorphism of the ACE gene in patients with EN included in the chronic hemodilaysis (CH) program. According to our knowledge this is the first study that analyses ACE gene polymorphisim and serum ACE activity in patients with chronic tubulointerstitial nephritis i.e. EN. The study was performed in 73 patients on CH, in 28 the diagnosis of EN was established. A 287 bp insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene was examined by PCR and gel electrophoresis, whereas serum ACE activity were determined by sphectrophotometric method utilising the synthetic tripeptide substrate FAPGG. Results showed that the DD genotype was more often in patients with EN (42.8% vs. 26.6% in other patients, p > 0.05).The frequency of D allele in EN was 0.64 (p < 0.05 vs. the control group). Patients with DD genotype were the youngest at the time when diagnosis of EN was made ( 46.8ą6.2 vs. 48.2ą.2.1 ID and 47.7ą1.7 II; p > 0.05) and duration of the disease till CH was in those patients the shortest (p > 0.05). The values of serum ACE in the entire group of patients did not differ depending on ACE gene polymorphism (p > 0.05). On analysing the serum ACE activity in EN patients we, however, observed that this values were higher in patients with DD genotype than in those with II (39 vs. 28; p < 0.05). In other patients on CH there were no differences in serum ACE regarding ACE genotype. Based on our results we concluded that the frequency of D allele was increased in EN patients on CH, which together with increased serum ACE activity in these patients indicated the need for further studies of the ACE gene polymorphism. Regardless this polymorphism is a mediator, a genetic modifier or a marker of kidney disease progression in EN this could be valuable in better understanding of EN etiopathogenesis as well as it could be helpful in more sophisticated prevention.

Izvorni jezik
Engleski

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