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What is the neonatal survival rate for patients with ARPKD?
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Up to 90%.
What is a typical outcome of early bilateral nephrectomies in ARPKD patients?
Associated with severe neurological complications.
What are the secondary organ involvements in ARPKD apart from the kidneys?
Obligatory hepatic involvement, including ductal plate malformation, hepatic fibrosis, and portal hypertension.
What is recommended for managing hypertension in ARPKD patients post-nephrectomy?
Careful monitoring of sodium levels; there is no specific treatment for severe hypertension post-nephrectomy.
What are major causes of early death in patients with ARPKD?
Pulmonary hypoplasia, sepsis, and chronic kidney disease (CKD).
What are the key risk factors for early dialysis dependency in ARPKD?
Oligo/anhydramnios, prenatal enlarged kidneys, and low Apgar score.
What proportion of patients with ARPKD experience renal survival by age 20?
About 50%, though this may vary.
What imaging characteristic is typically seen in ultrasound scans of kidneys affected by ARPKD?
The “salt and pepper” sign.
Why is genetic testing important in the diagnosis of ARPKD?
To differentiate ARPKD from phenocopies.
How does ARPKD typically manifest in the kidneys?
Massively enlarged kidneys due to dilation of the collecting ducts.
What is the main genetic cause of Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
Variants in the PKHD1 gene.
What is the significance of international research collaboration in ARPKD?
It is crucial for developing targeted therapies and improving patient outcomes.
Which protein's function is poorly understood but involved in ARPKD?
Fibrocystein.
What is the observational value of the ARPKD Registry (A-REG)?
It provides a large dataset for longitudinal studies to better understand clinical courses.
What is the feasibility of Peritoneal Dialysis (PD) in young children with ARPKD?
PD can be used effectively in young children with ARPKD.
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