Prevalensi delesi 27 bp gena protein band 3, derajat ovalositosis dan asidosis tubulus distal ginjal pada kasus ovalositosis di daerah endemis malaria Kecamatan Sekotong, Kabupaten Lombok Barat

DANUYANTI, I Gusti Ayu Nyoman, dr. Ahmad Hamim Sadewa, Ph.D

2010 | Tesis | S2 Ilmu Kedokteran Dasar dan Biomedis

Latar Belakang : Southeast Asian Ovalositosis (SAO) disebabkan delesi 27 bp gena protein band 3 membran eritrosit yang menyebabkan peningkatan rigiditas dan penurunan deformabilitas membran eritrosit yang ditandai dengan morfologi eritrosit berbentuk oval. Ekspresi gena protein band 3 tidak hanya pada membran eritrosit tetapi juga membran sel α-tubulus kolektivus ginjal yang berfungsi pada sekresi asam di tubulus ginjal dan pertukaran anion HCO3 -/Cl-. Perubahan fungsi protein band 3 pada sel α-tubulus kolektivus ginjal menyebabkan gangguan pertukaran ion HCO3 -/Cl- sehingga mengakibatkan penurunan sekresi ion H+ dan gangguan proses pengasaman urine pada tubulus distal sebagai indikator asidosis tubulus distal ginjal (dRTA). Penelitian tentang hubungan SAO dan dRTA ditemukan lebih dari 80% SAO pada pasien dRTA, tetapi tidak terdapat informasi mengenai dRTA pada subjek SAO. Tujuan : Mengetahui prevalensi delesi 27 bp gena protein band 3, derajat ovalositosis dan asidosis tubulus distal ginjal pada populasi di daerah endemis malaria Kecamatan Sekotong, Kabupaten Lombok Barat. Metode : Penelitian ini menggunakan rancangan kasus kontrol. Derajat ovalositosis ditentukan dengan morfologi eritrosit berbentuk oval 20%-100% dalam 1000 eritrosit. Delesi 27 bp gena protein band 3 dianalisa dengan metode polymerase chain reaction (PCR) dan kadar bikarbonat (HCO3 -) dengan metode alkalimetri, kalium (K+) dan klorida (Cl-) dengan metode spektrofotometri. Uji Chi square digunakan untuk mengetahui hubungan delesi 27 bp gena protein band 3 dan dRTA. Hasil : Derajat ovalositosis diatas 50% ovalosit terdapat pada 35,7% individu dan dibawah 50% terdapat pada 64,3% individu ovalositosis. Prevalensi delesi 27 bp gena protein band 3 pada subjek penderita ovalositosis sebesar 35,7% (n=28). Frekuensi dRTA pada subjek SAO sebesar 20% (n=10) dan nilai risiko relatif (RR) sebesar 0,800 (risiko individu non dRTA 0,800 kali lebih tinggi dari individu dRTA). Kesimpulan : Terdapat hubungan antara delesi 27 bp gena protein band 3 dengan asidosis tubulus distal ginjal (dRTA) pada populasi ovalositosis di daerah endemis malaria, Kecamatan Sekotong Kabupaten Lombok Barat.

Background: Southeast Asian Ovalocytosis (SAO) caused by 27 bp deletion of the band 3 protein gene in erythrocyte membrane lead to an increase of rigidity and decrease of erythrocyte membrane deformability, indicated by the oval erythrocytes morphology. The band 3 protein gene is expressed not only in erythrocyte membranes but also in the cell membrane of α-collecting renal tubular functions in the secretion of acid in renal tubules and HCO3 -/Cl- anion exchange. An alteration of the band 3 protein functions in cell of α-collecting renal tubules reduces HCO3 -/Cl- ion exchange resulting in decreased secretion of H+ ions and disturbances in the process of pickling urine as an indicator of distal renal tubular acidosis (dRTA). Research on the relationship between SAO and dRTA found that more than 80% SAO occur in dRTA patients, but there is no information on dRTA among SAO patient in population. Objectives: To study the prevalence of 27 bp deletion band 3 protein gene, the ovalocytosis degrees and dRTA in the population of malaria endemic areas, Sekotong of West Lombok Regency. Methods: This study was a case-control design. Ovalocytosis degree determined by oval erythrocytes morphology of 20%-100% in 1000 erythrocytes. The 27 bp deletion of band 3 protein gene was analyzed by polymerase chain reaction (PCR), levels of bicarbonate (HCO3 -) by alkalimetry, potassium (K+) and chloride (Cl-) by spectrophotometry. The chi square test was used to analysed relationship between the 27 bp deletion of band 3 protein gene and dRTA. Results: The degree of ovalocytosis 50% was found in 35,7% individuals and below 50% was found in 64,3% individuals. Prevalence of 27 bp deletion of band 3 protein gene among subject of ovalocytosis patients was 35,7% (n = 28). The frequency of the dRTA among SAO patients was 20% (n = 10) and the value of relative risk (RR) was 0.800 (non dRTA individuals risk 0.800 times higher than that of dRTA individuals. Conclusion: There is a relationship between the 27 bp deletion protein band 3 gene with distal renal tubular acidosis (dRTA) in ovalocytosis populations of malaria endemic areas, Sekotong of West Lombok Regency.

Kata Kunci : Delesi 27 bp gena protein band 3,Derajat ovalositosis,Asidosis tubulus distal ginjal,27 bp deletion of band 3 protein gene, ovalocytosis degrees, distal renal tubular acidosis.