Polycystic Kidney Disease Genetic Basism Diagnosis And Management A Descriptive Cross-Sectional Study
DOI:
https://doi.org/10.47750/waa5qe88Abstract
Background: PKD is a disease depending on genetics with cyst growth in the kidneys that gives rise to renal malfunction. It is caused by mutation in PKD1, PKD2 and PKHD1 genes. Screening and specific management plans are however key to enhancing patient survival and prevention of growth to ESRD.
Objectives: Clinical research questions: To compare the genetic and diagnostic characteristics of PKD, and to compare the efficacy of novel therapeutic interventions in decreasing clinical progression in patients with the disease.
Study Design : A descriptive cross-sectional study.
Place and duration of study. Department of Urology MTI BKMC/MMC Mardan Pakistan from jan 2022 to july 2022
Methods: The present study is a descriptive cross-sectional study conducted from January to December 2022 in which 150 patients of PKD participated. Medical genetic testing, radiological scans, and physical examinations as well as laboratory tests were used to confirm the diagnoses. The demographic characteristics, symptoms, estimated glomerular filtration rate and dialysis prescriptions were recorded. Data was analyzed using SPSS Software Version 24.0, differences as measured by mean ± SD and P value were determined..
Results: Of 150 patients (mean age: 42.3 ± 9.6 years-old), PKD1 mutations were identified in 65%, PKD2 in 30% and PKHD1 in all 8 ARPKD cases. The majority of the patients had hypertension (78%) and flank pain (62%). In the current study, the mean eGFR was 52 ± 10 mL/min/1.73m². AVPRA inhibitors also decreased the rate of disease progression (trend level <= 0.001), but neither dual management nor conventional anti hypertensive therapy brought patients’ BP into the target range in 72% patients.
Conclusion: PKD has also been linked with PKD1, PKD2 and PKHD1 genes mutations. Although imaging and genetics help in early detection of the disease, vasopressin receptor antagonists hold great potential in treating the disease and reversing the condition. Targeted therapy enhances disease prognosis in PKD.
