Diagnosis of ARPKD
Diagnosis of ARPKD typically begins either during pregnancy or shortly after birth, depending on the severity of the condition. Prenatal ultrasounds may detect enlarged, echogenic (bright) kidneys with poor corticomedullary differentiation — a red flag that prompts further investigation.
Key diagnostic methods include:
- Prenatal Ultrasound
- May show enlarged kidneys and decreased amniotic fluid (oligohydramnios)
- Lung development may be compromised in severe cases
- Postnatal Ultrasound or MRI
- Detects cystic enlargement of the kidneys and possible liver involvement
- Confirms structural abnormalities and organ size
- Genetic Testing
- Confirms mutations in the PKHD1 gene
- Useful for family planning and understanding prognosis
- Blood and Urine Tests
- Assess kidney function, electrolyte balance, and possible signs of kidney failure
- Liver Function Tests and Imaging
- Evaluate bile duct abnormalities and detect portal hypertension
- Blood Pressure Monitoring
- High blood pressure is a frequent early sign and must be closely managed
Diagnosis of ARPKD
In South Africa, limited access to high-resolution ultrasound may delay prenatal diagnosis of ARPKD. After birth, hospitals with paediatric nephrology units—such as those in Cape Town, Johannesburg, or Durban—provide the best care for evaluating and managing suspected cases.
Some infants may receive an initial misdiagnosis, especially if born in facilities without paediatric specialists. Once red flags appear, doctors must refer the child promptly to a tertiary hospital.
Although ARPKD is a lifelong condition, early diagnosis offers the chance to monitor for complications and begin supportive treatments that can greatly improve long-term outcomes.
The Importance of Early and Accurate Diagnosis
Early diagnosis of ARPKD lays the groundwork for timely intervention and better long-term management. Identifying the condition prenatally or shortly after birth allows for immediate monitoring of kidney and liver health, as well as blood pressure control — all of which are critical to improving survival and quality of life. Advanced imaging and genetic testing provide clarity for families and medical teams, enabling informed decisions about treatment and care planning.
Bridging Gaps in Access and Awareness
In South Africa, disparities in access to diagnostic tools remain a challenge, especially in rural or under-resourced areas. Raising awareness among general practitioners, midwives, and sonographers can lead to earlier recognition and referral to specialised centres. With accurate diagnosis and timely support, families affected by ARPKD can begin the journey equipped with knowledge, guidance, and hope for the future.
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