Genetic Predisposition to Kidney Diseases Uncovering the Role of Genomics in Nephrology

Original Article

Abstract

Background: Both hereditary and nonhereditary kidney diseases are prevalent, and millions of people are suffering from the problem all over the world. Molecular genetic analysis has revealed major genes associated with these ailments, implicating the need for genetic counselling. It is the knowledge of the genetic make-up that will assist in the screening, prevention, and even management of part treatments of kidneys.

Objectives: In order to study the genetic factors that may be connected with kidney diseases and to define how certain variations of a gene are linked to the pathogenesis of the disease employing a genetic approach.

Study Design: A Descriptive Cross-Sectional Study

Place and Duration of Study. Department of Anatomy, Khyber Medical College, Peshawar, Pakistan. From 03 jan 2023 to 05 june 2023

Methods: One hundred patients diagnosed with CKD  Molecular characterisation was done to look at the gene changes. Descriptive statistics and independent t-tests and regression models examined the association between genetic variations and disease outcome. The use of standard deviation as the measure of variability was done, and p<0.05 was used to assess significance.

Results: The results of the test involving 100 patients showed that 35 percent patients had severe mutation in the PKD1 gene, 20 percent of patients has high-risk mutation in the APOL1 gene. Carriers of the APOL1 risk allele had a mean estimated glomerular filtration rate of 42 ± 8 ml/min whereas those patients without the mutation had a mean estimated glomerular filtration rate of 58 ± 7 ml min, a difference of 27. 6 % (p = 0. 02). Further, 15% of the cohort bore genetic mutations associated with congenital anomalies of the kidney and urinary tract (CAKUT). Thus, genetic mutations, suggesting premorbid drug nephrotoxicity, increased the odds ratio of disease progression to stage 4 or 5 CKD by 30 percent (p<0. 05).

Conclusions: The sequencing of the genes defined some of the relations between gene changes and the intensity of kidney disease. Based on these discoveries, genetic screening should be incorporated into nephrology patient management to determine prospects for disease evolution and the applicability of particular therapies.