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Autosomal Recessive Polycystic Kidney Disease: Signs & Care
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder that affects the kidneys and liver. In ARPKD, fluid-filled sacs called cysts form in the kidneys, leading to their enlargement and impacting their function. This can result in complications that affect overall health and well-being. The presence of these cysts can lead to various health issues and may impact kidney and liver function, which are crucial for maintaining the body's internal balance.
What are the Symptoms of Autosomal Recessive Polycystic Kidney Disease?
Autosomal Recessive Polycystic Kidney Disease typically manifests with a distinct set of symptoms affecting the kidneys and other organs.
- Enlarged kidneys
- High blood pressure
- Urinary tract infections
- Urinary frequency
- Kidney failure
- Liver problems
- Abdominal pain
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Get Second OpinionCauses of Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease is primarily caused by a genetic mutation affecting the PKHD1 gene, leading to the development of fluid-filled cysts in the kidneys.
- Mutations in the PKHD1 gene
- Inherited from both parents with the mutated gene
Types of Autosomal Recessive Polycystic Kidney Disease
Autosomal recessive polycystic kidney disease can manifest in different ways, affecting multiple organs and leading to various complications.
- Classic Autosomal Recessive Polycystic Kidney Disease (ARPKD): This is the most common type of ARPKD that presents with kidney and liver cysts in childhood.
- Perinatal Autosomal Recessive Polycystic Kidney Disease: This severe form is diagnosed before birth or in the first few days of life due to extensive kidney and liver involvement.
- Neonatal Autosomal Recessive Polycystic Kidney Disease: A less severe form than perinatal ARPKD, it is diagnosed in the first few weeks of life with milder kidney and liver symptoms.
- Infantile Autosomal Recessive Polycystic Kidney Disease: This type manifests in infancy with progressive kidney and liver complications.
- Juvenile Autosomal Recessive Polycystic Kidney Disease: Diagnosed in childhood or adolescence, this form of ARPKD typically has a slower disease progression compared to the infantile form.
Risk Factors
Autosomal Recessive Polycystic Kidney Disease is more likely to occur in individuals with a family history of the condition or those born to parents who are carriers of the gene mutation.
- Family history of ARPKD
- Consanguineous parents
- Ethnicity (more common in white individuals)
- Gender (more common in males)
- Gestational age of less than 37 weeks
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Diagnosis of Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease is typically diagnosed through a combination of medical history evaluations, physical exams, and various diagnostic tests.
- Ultrasound imaging
- Genetic testing
- Blood tests
- Urine tests
- Kidney function tests
Treatment for Autosomal Recessive Polycystic Kidney Disease
Treatment for Autosomal Recessive Polycystic Kidney Disease focuses on managing symptoms and complications to improve quality of life.
Blood Pressure Control:
- Managing blood pressure is crucial in slowing the progression of Autosomal Recessive Polycystic Kidney Disease and reducing the risk of complications such as kidney failure.
Symptomatic Treatment:
- Addressing symptoms such as pain, urinary tract infections, and kidney stones through medications or other interventions to improve quality of life.
Dialysis:
- In advanced stages of the disease, dialysis may be necessary to help the kidneys filter waste and excess fluids from the blood.
Kidney Transplant:
- For individuals with endstage kidney disease, a kidney transplant can be a lifesaving treatment option to replace the diseased kidneys with a healthy donor kidney.
Supportive Care:
- Providing comprehensive care and support to manage the physical and emotional aspects of Autosomal Recessive Polycystic Kidney Disease, including nutritional support and psychosocial services.
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040-68334455Frequently Asked Questions
What is Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
ARPKD is a genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys and sometimes the liver, leading to kidney and liver problems.
What are the symptoms of ARPKD?
Symptoms may include high blood pressure, kidney failure, liver problems, urinary tract infections, and growth delays in children.
How is ARPKD diagnosed?
Diagnosis typically involves imaging tests like ultrasound or MRI, genetic testing, and evaluation of symptoms and family history.
Is there a cure for ARPKD?
There is no cure for ARPKD, but treatment focuses on managing symptoms and complications to improve quality of life.
What is the prognosis for individuals with ARPKD?
Prognosis varies depending on the severity of kidney and liver involvement, with some individuals experiencing kidney failure early in life while others may have milder symptoms. Early detection and management can help improve outcomes.
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