There is currently no treatment or cure for ARPKD, but the discovery of the ARPKD gene now provides researchers with a genetic "road map" for a functional understanding of how PKD progresses, and "paves the way" for gene testing, more conclusive diagnosis, and treatments to retard development of the disease.
This will arm people at risk for ARPKD with information to help them make educated decisions affecting themselves and their families.
Individuals with the recessive form (ARPKD
) are affected as newborns or young children, and roughly 30 percent of children with ARPKD
die during infancy.
In addition to nephronophthisis, in ADPKD and ARPKD part of the complexity in molecular diagnosis lies with the plethora of mutations inherited by the patients who belong to different families.
Cellular and subcellular localization of the ARPKD protein: fibrocystin is expressed on primary cilia.
In the study, laboratory mice with ARPKD were divided into a treatment and non-treatment group.
These early studies provide some hope that this approach can be used for the treatment of ARPKD.
Seven of our 20 cases (35%) were diagnosed as such only retrospectively; 5 were ARPKD (cases 1-5) and 2 were ADPKD (case 6 and 7), demonstrating that PKD is the most important entity in the differential diagnosis of GCK.
The case was initially interpreted as "GCK," but genetic testing of tissues from the newborn and of blood from the parents established the diagnosis of ARPKD.
30] (2012) ARPKD Death Patients with Patient censored renal rejection, % survival, allograft Author (year) % survival, % Kidney Liver Polinsky et 0 NR NR NR al.
Similarly, patients with ARPKD demonstrate excellent graft and patient survival.
And soon into the pregnancy it was picked up that she too was suffering from ARPKD