Al-Kufa University Journal for Biology / VOL.8/ NO.3/ Year: 2016 Print ISSN: 2073-8854 & Online ISSN: 2311-6544 7 URL: http://www.uokufa.edu.iq/journals/index.php/ajb/index http://iasj.net/iasj?func=issues&jId=129&uiLanguage=en Email: biomgzn.sci@uokufa.edu.iq Study of some physiological parameters in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) Rafie S. Al-Khafaji* Haider K. Zaidan** Ali H. Al-Saadi** * Faculty of Science/University of Kufa. **Faculty of Science/University of Babylon *Email: rafie.alkhafaji@uokufa.edu.iq Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common Mendelian disorder of the kidney and affects all racial groups worldwide. It is characterized by focal development of renal and extrarenal cysts in an age-dependent manner. This study tested some physiological parameters in two groups of patients with ADPKD, the first group included patients with kidney failure and the second group included patients without renal failure as well as the control group. The study showed an increase in urea and uric acid in the serum of the patients without renal failure compared with the control levels and were higher in the patients with renal failure compared with the patients without renal failure, which amounted to 115.8 mg / dL and 10,278 mg / dL and 22.45 mg / dL and 7,264 mg / dL and 11.03 mg / dL and 3,264 mg /dL respectively. Creatinine serum level was higher in the patients with renal failure compared with the patients without renal failure and control, reaching 3.5 mg / dL , compared with 1,026 mg / dL and 0986 mg / dL , respectively. Potassium ion level was higher in patients without renal failure than in control reaching 4,179 mmol / L and 2.34 mmol / L, respectively, while the level was higher in patients with renal failure than in patients without renal failure where it reached 7.09 mmol / l. Sodium ion levels were low in the patients with renal failure and the patients without renal failure than in the control group, reaching 87.06 mmol / l and 129 843 mmol / l and 147.25 mmol / L, respectively. The level of sodium ion was lower in the patients with renal failure than in the patients without renal failure. Results of the study showed normal levels in serum albumin and liver enzymes, AST and ALT. Key words: Autosomal Dominant Polycystic Kidney Disease, physiological parameters. _____________________________________________________________________ Introduction Autosomal dominant polycystic kidney disease (ADPKD) is a systemic hereditary disorder that affects more than 12.5 million individuals worldwide. Thus, ADPKD is the most common life- threatening hereditary genetic disease, compared to the numbers of individuals affected by cystic fibrosis, Down's syndrome, hemophilia, muscular dystrophy, and sickle cell anemia, combined [1]. ADPKD is inherited as an autosomal dominant trait with complete penetrance. ADPKD is characterized by progressive formation and enlargement of renal filled-fluid cysts resulting in abnormal kidney structure and renal insufficiency. End-stage renal disease (ESRD) will be observed in 50% of cases by the fifth decade [2]. Numerous renal and extra-renal manifestations have been described for ADPKD. Hypertension, left ventricular hypertrophy, cardiac valvular defects, back and abdominal pain, cerebral aneurysms, and liver cysts are the most important clinical findings. Overall, it accounts for approximately 5% of ESRD in developed countries [3,4]. It is genetically heterogeneous with two genes identified, PKD1and PKD2. PKD1 gene locates to chromosome 16 and responsible of 85% of ADPKD cases, while PKD2 gene locates to chromosome 4 that responsible of the remained cases. Although the phenotypes of PKD1 and PKD2 overlap completely, PKD1 is associated with more severe renal disease with an earlier clinical presentation