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First-ever grant from the PKD Charity for ARPKD Research

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The PKD Charity has awarded £10,000 to Dr Evi Goggolidou for a study on a gene which is believed to influence the development and progression of Autosomal Recessive Polycystic Kidney Disease (ARPKD).

will arpkd aged5
Will has ARPKD and had a kidney transplant when he was 2, from his dad

This is the first grant from the charity focusing solely on ARPKD. ARPKD is a rare inherited condition which affects the kidneys and liver. It occurs in about one in every 20,000 live births and results from abnormalities – called mutations - in a gene which controls how kidneys develop in the womb.

ARPKD mostly affects children around birth, but a wide range of severity is observed. Sadly, about one baby in three with ARPKD dies from breathing problems during the first four weeks after birth and some will die during pregnancy. However, about 8 to 9 in ten babies (80-90 per cent) who survive the first four weeks of life are still alive at five years old. Some children will need dialysis and a kidney transplant (such as 5 year-old Will in this photo) but encouragingly, a good number of children have a milder form of ARPKD and survive into adulthood with full and productive lives.

One possible reason for the variation in disease severity is that other genes might modify the clinical symptoms of ARPKD.

Enlarged cystic kidneys are a major problem in ARPKD. It is known that cysts can arise because of the abnormal arrangement of cells in the kidneys and that several genes ‘control’ this arrangement by sending special chemical signals through antenna-like cilia which stick out of every kidney cell.

Dr Evi’s research group is working on a gene called ATMIN which they believe plays a role in modifying ARPKD severity.

In this PKD Charity funded grant, they will investigate how ATMIN could determine ARPKD severity by looking at how ATMIN interacts with kidney cells and relating them to the severity of ARPKD. Better understanding of such interactions could help develop treatments that reduce the severity of ARPKD.

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