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Focus on... autosomal dominant polycystic kidney disease

Kamila Orzechowska, a final-year student at Coventry University, looks at the role of epidermal growth factor receptors and microbial infections in autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited diseases in humans. It affects 60,000 patients in the UK and an estimated 10 million worldwide. Some treatment options include the medication tolvaptan and renal replacement therapy (RRT). While tolvaptan is approved for use in the EU and US, NICE guidance stresses that it can only be used for adults at chronic kidney disease (CKD) stage 2/3.

ADPKD results from germline mutations in the genes PKD1 or PKD2. A significant characteristic of the disease is a presence of fluid-filled cysts and enlargement of the total kidney volume (TKV). The decrease in renal function is a major problem in ADPKD and appears when the patient reaches the fourth or fifth decade of life. Additionally, progressive cyst formation and renal function reduction often lead to end-stage renal disease (ESRD). Research shows that the typical characteristics of ADPKD are expansion of the renal collecting tubules and cyst formation, originating from the localised proliferation. Cyst infection in ADPKD affect 30%–50% of ADPKD patients.

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Image Credit | Getty

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