APRT Deficiency and Dihydroxyadeninuria

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APRT Deficiency and Dihydroxyadeninuria

Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic disorder that often causes kidney stones, and in some patients kidney failure.

More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. 2,8-DHA is poorly soluble in the urine leads to the formation of kidney stones and kidney injury. Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color. Most patients with APRT deficiency have repeated episodes of kidney stones that are not detected by a conventional x-ray study. However, all stones are easily detected by other medical imaging methods such as ultrasound or computerized tomography (CT) scan. A minority of patients develop symptoms of kidney failure. Kidney stones are often associated with severe loin or abdominal pain. Symptoms associated with kidney failure are largely nonspecific such as increased fatigue and weakness, poor appetite, and weight loss. Children with the disease may have similar symptoms as adults. In young children, APRT deficiency can cause reddish-brown diaper spots. Currently, no patient support organizations devoted to APRT deficiency exist. However, if you or your physician or other health care providers have questions about the diagnosis of APRT deficiency, or care of patients who have this problem, please do not hesitate to contact Vidar Edvardsson, MD (vidare@landspitali.is) and/or Runolfur Palsson, MD (runolfur@landspitali.is) at Landspitali University Hospital in Reykjavik, Iceland (paging operator: +354-543-1000).

25/10/2018

At the ASN's Kidney Week 2018 in San Diego: members of the APRT research group presenting findings on DHA quantification in urine and plasma.

01/10/2018

A Rare Kidney Stone Consortium collaboration - a new understanding of the dynamics of kidney stones!

A geologist, a microscopist and a doctor walk into a lab and, with their colleagues from across the nation, make a discovery that overturns centuries of thought about the nature and composition of kidney stones. The team's key insight, reported in the journal Scientific Reports, is that kidney stone...

25/02/2018

Are you a patient diagnosed with APRT Deficiency?

We have been researching eye symptoms among patients with APRT Deficiency and hope you will consider participating and sharing your experience, whether you are familiar with these complaints or not – your input is invaluable to us!

Click below to join the contact registry of the Rare Disease Clinical Research Network, and make sure to choose APRT deficiency so that the survey will be available to you.

Thank you!

The RDCRN Contact Registry is a way for patients with rare diseases and their family members to learn about research studies they may be able to join. Participation is completely voluntary and you may choose to withdraw at any time. There is no cost to join the Contact Registry.

24/09/2017

We were at the Nordic Society of Nephrology Biennial Congress in Sweden last week discussing our findings on outcomes of the patients in our APRT deficiency Registry who presented in childhood and those patients who have undergone kidney transplantation. Thanks to the patients who contribute so much to our research and in helping us raising awareness - we could not do this without you!

14/09/2017

01/09/2017

We are at the 16th Congress of the European Federation of Internal Medicine presenting outcomes in kidney transplantation, eye manifestations and kidney stone misidentification in APRT deficiency

11/02/2017

Dear friends,

We are pleased to announce that our survey on eye symptoms is finally live!

We hope you will consider participating and sharing your experience, whether you are familiar with these complaints or not – your input is invaluable to us!

Click below to join the contact registry of the Rare Disease Clinical Research Network, and make sure to choose APRT deficiency so that the survey will be available to you.

Thank you!

https://www.rarediseasesnetwork.org/cms/rksc/Get-Involved/Contact-Registry

The Rare Diseases Clinical Research Network (RDCRN) Rare Kidney Stone Consortium (RKSC) Contact Registry is a way for patients with rare kidney stone disorders and their family members to learn about RKSC research studies they may be able to join. Participation is completely voluntary and you may ch...

27/07/2016

APRT deficiency Patient and Clinician Day on July 29th, 2016

Any patients who wish to participate in the meeting via Skype are welcome to join in! Please contact rarekidneystones [at] landspitali.is to register.

11/07/2016

APRT deficiency Patient and Clinician Day on July 29th, 2016

Dear all,

The first APRT deficiency Patient and Clinician Day will be held at the end of July at the Royal Free Hospital on London, UK.
The agenda is as follows:

1.00 – 1.10 pm Welcome and introduction

1.10 -1.40 pm: What is APRT deficiency and what are the consequences?

1.40 - 2.00 pm How do we measure APRT deficiency in the clinic?

2.00 – 2.30 pm Break and networking

2.30 – 3 pm Do we know how to treat APRTd?

3.00 -3.30 pm Patient groups and information

13/05/2016

We are preparing our next newsletter - please subscribe to make sure you are up to date with the latest news!

http://www.aprtd.org/ #!subscribe/mqz96

05/02/2016

Rare Disease Day is on February 29th! The official 2016 video out - time to celebrate the special moments in the lives of people living with a rare disease!

https://www.youtube.com/watch?time_continue=6&v=02zR9r-LOfQ

http://www.rarediseaseday.org/ This is the official video for 2016! Patient Voice: Join us in making the voice of rare diseases heard! Read m...

26/11/2015

Reminder for our Patient Support Group meeting today at the Children's Hospital in Reykjavik at 17:30! Hope to see you there!

Address

Landspitali University Hospital, Hringbraut
Reykjavík
101

Telephone

+354-543-1000

Website

http://www.rarekidneystones.org/, http://www.aprtd.org/

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