Autosomal dominant polycystic kidney disease
| Autosomal dominant polycystic kidney disease | |
|---|---|
| Polycystic kidneys, gross pathology CDC PHIL.png | |
| Polycystic kidneys | |
| Synonyms | Autosomal dominant PKD, adult-onset PKD
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| Specialty | Nephrology, Medical genetics |
| Symptoms | Flank pain, hematuria, hypertension, abdominal mass, urinary tract infections, kidney stones |
| Complications | Chronic kidney disease, end-stage renal disease, liver cysts, intracranial aneurysm, cardiac valve abnormalities |
| Usual onset | Usually between ages 30–40 |
| Duration | Lifelong, progressive |
| Types | Type 1 (PKD1 gene), Type 2 (PKD2 gene) |
| Causes | Mutations in PKD1 or PKD2 genes |
| Risk factors | Family history of ADPKD |
| Diagnosis | Ultrasound, CT scan, MRI, genetic testing |
| Differential diagnosis | Autosomal recessive polycystic kidney disease, simple kidney cysts, tuberous sclerosis |
| Prevention | None |
| Treatment | Blood pressure control, pain management, treatment of infections, dialysis, kidney transplant |
| Medication | Tolvaptan, antihypertensives, analgesics |
| Prognosis | Progressive; many develop end-stage kidney disease by age 60 |
| Frequency | ~1 in 400 to 1 in 1,000 live births |
| Deaths | Often due to renal failure or complications from hypertension |
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of numerous cysts in the kidneys. These cysts can lead to a variety of complications, including hypertension, kidney pain, and ultimately kidney failure. ADPKD is one of the most common inherited kidney disorders.
Genetics[edit]
ADPKD is caused by mutations in the PKD1 or PKD2 genes. The PKD1 gene is located on chromosome 16 and accounts for approximately 85% of cases, while the PKD2 gene is located on chromosome 4 and accounts for about 15% of cases. The disease is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the mutated gene to each offspring.
Pathophysiology[edit]
The pathophysiology of ADPKD involves the formation of fluid-filled cysts in the kidneys. These cysts arise from the renal tubules and progressively enlarge, leading to the distortion of normal kidney architecture. The expansion of cysts can cause compression of surrounding renal tissue, leading to decreased kidney function over time. The exact mechanism by which mutations in PKD1 and PKD2 lead to cyst formation is not fully understood, but it is believed to involve defects in cilia function and cellular signaling pathways.
Clinical Features[edit]
The clinical presentation of ADPKD can vary widely among individuals. Common symptoms include:
- Hypertension
- Flank or abdominal pain
- Hematuria (blood in urine)
- Recurrent urinary tract infections
- Kidney stones
As the disease progresses, patients may develop chronic kidney disease and eventually end-stage renal disease (ESRD), requiring dialysis or kidney transplantation.
Diagnosis[edit]
ADPKD is typically diagnosed through imaging studies such as ultrasound, CT scan, or MRI, which can reveal the presence of multiple renal cysts. Genetic testing can confirm the diagnosis by identifying mutations in the PKD1 or PKD2 genes.
Management[edit]
There is currently no cure for ADPKD, but management focuses on controlling symptoms and slowing disease progression. Treatment options include:
- Blood pressure control, often with angiotensin-converting enzyme inhibitors or angiotensin receptor blockers
- Pain management
- Treatment of urinary tract infections
- Dietary modifications to reduce salt intake
In advanced cases, dialysis or kidney transplantation may be necessary.
Prognosis[edit]
The prognosis of ADPKD varies, with some individuals maintaining adequate kidney function for many years, while others progress to ESRD by middle age. Factors influencing prognosis include the specific genetic mutation, the rate of cyst growth, and the presence of complications such as hypertension.
Related pages[edit]
External links[edit]
| Congenital malformations and deformations of urinary system | ||||||
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| Cystic diseases | ||||||||||
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