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The mystery gene of polycystic kidney disease: How do PKD1 and PKD2 affect your kidneys?
Polycystic kidney disease (ADPKD) is one of the most common inherited kidney diseases and is considered a life-threatening genetic disease. This disease is characterized by the formation of large numbers of cysts within the kidneys, which interfere with an individual's normal kidney function. Patients usually begin to experience significant symptoms between the ages of 30 and 40, and it is estimated that more than half of patients will eventually develop end-stage renal disease and require dialysis or kidney transplantation. Statistically, ADPKD affects at least one in 1,000 people worldwide, making it one of the most prevalent genetic kidney diseases.
The formation of kidney cysts usually begins during fetal life and gradually manifests itself in adulthood.
Genes and variability
The genetic characteristics of ADPKD are highly genetically heterogeneous and are mainly caused by two genes, PKD1 and PKD2. The PKD1 gene is located on chromosome 16, and about 85% of cases are related to this gene, while PKD2 is located on chromosome 4, accounting for only about 15%. Mutations in these two genes trigger the formation of kidney cysts and their associated decline in kidney function.
Patients with PKD1 mutations develop renal failure around the age of 70, while patients with PKD2 mutations can still maintain good kidney function at this age.
Pathophysiology of ADPKD
In many people with ADPKD, decline in kidney function usually becomes apparent in their 30s or 40s. However, research suggests that kidney cyst formation may begin in the womb. Initially, these cysts are small dilations of the kidney tubules and, over time, develop into fluid cysts of varying sizes. Various factors, including genetic mutations and kidney damage, contribute to cyst formation.
Diagnosis and Screening
Diagnosis of ADPKD is usually made through imaging tests. Commonly used methods include ultrasound, CT scan, or MRI. In some specific cases, molecular diagnostics may be needed to confirm ADPKD. Especially in cases where ADPKD runs in the family, early molecular genetic testing can provide critical diagnostic information.
The diagnosis of ADPKD may be considered reasonable when the patient's imaging studies reveal bilateral renal enlargement and cysts.
Treatment options
Currently, drug treatment for ADPKD mainly uses thiol urea analogs (such as tolvaptan) to slow down the increase in kidney size. Although this does not reverse the course of the disease, it can reduce the rate of decline in kidney function. Furthermore, recent studies have shown that dietary interventions and lifestyle changes, such as the ketogenic diet, have a positive impact on the progression and symptoms of ADPKD.
Future research directions
With in-depth research on the etiology and pathophysiology of ADPKD, future treatment strategies are likely to be more targeted and effective. At present, while paying attention to the quality of life of patients, improving treatment effects and prognosis has become the focus of scientific research. How to further understand the role of PKD1 and PKD2 genes in renal pathology may open new horizons for future treatments.
Patients' treatment needs for ADPKD are not only physiological intervention for the disease, but also improvement of quality of life.
ADPKD has brought profound physical and mental challenges to many patients. Faced with this common but complex genetic disease, how to better manage the disease and improve the quality of life of patients is still the goal pursued by clinical and scientific researchers.
