International Symposium

This international meeting about cystinuria is held every 2 years and was held for the first time in the UK in 2012 as part of the Rare Kidney Stone Consortium.Meeting Review:

The first UK Rare Kidney Stone Consortium meeting was held in London on Saturday 15th December 2012 was attended by our team of Mitra Smith(nurse), Angela Doherty (dietician), Kathie Wong (Research Fellow) and myself. The day provided a unique opportunity for patients and doctors to mix and discuss problems and ideas. An excellent venue and catering was arranged by Dr Urwin at the Royal Free Hospital, London.

As expected cystinuria patients formed the majority of the attendees, many of whom had travelled with their family from all over the UK and even the Netherlands! The morning session was a series of presentations about each of the rare disease groups, then the afternoon was disease specific breakout sessions.

The cystinuria group were given an excellent overview of the history of the disease by Matthew Lewis – President of the International Cystinuria Foundation. He took us on a journey from the first description of a cystine stone in 1810 (stone still held at Guy’s Hospital) through to the exciting advances in potential drug treatments.

Our own group presented the research that I have been supervising over the 4 years since the clinic was established. Kathie Wong our current research fellow presented our innovative work on urine monitoring of cystine crystals and the other dibasic amino acids affected in cystinuria (arginine, ornithine and lysine) to give a more accurate prediction of disease activity. The recent genetic studies of 70 patients attending our clinic and protein modelling work was also presented.

Angela Doherty gave an insight into her unique experience of providing dietary advice for cystinuric patients in our clinic. This led to a lively debate and lots of questions from the cystinuria patients present.

Dr David Goldfarb entertained as always with a summary of his vast experience with the disease. It was an honour for me to then join him on the podium for a ‘question and answer’ session from patients and doctors. Themes discussed were; the role of urinary pH monitoring and treatment, side effects of medication, cost of treatments, blood pressure control, surgical management.

The overwhelming feeling from the day was one of collaboration and optimism. Discussions continued well into the coffee and lunch breaks and we have had contact with both patients and doctors via e-mail subsequently.

Miss Kay Thomas

Programme from 2012:

9.30-10:00: Coffee and registration

• 10:00-10:25: RKSC and cystinuria: David Goldfarb (New York University, NYU)

• 10:25-10:50: APRT deficiency: Vidar Edvardsson (Landspitali University Hospital, Iceland)

• 10:50-11:15: Dent Disease: Lada Beara-Lasic (New York University, NYU)

• 11:15-11:40: Urologic stone management in the UK: Kay Thomas (Guy's and St Thomas’ NHS Foundation Hospital, London)

• 11:40-12:05: Kidney stone genetics and current research: Robert Kleta (University College London, UCL)

• 12:05-12:30: Potential for screening by mid-infrared spectroscopy - cystinuria: Annalisa Vilasi/Peter Rich (UCL)

12:30 -13:30: Sandwich Lunch - availability for registries to be open for patient enrollment, and throughout the meeting

13:30-14:20 Individual ‘breakout’ groups

Cystinuria: Chair David Goldfarb

• 13:30-14:20: Review of research in the understanding and treatment of cystinuria: Matthew Lewis (President, International Cystinuria Foundation – Imperial College London)

• 14:20-15:30: The Rare Kidney Stone Consortium: How are we doing with cystinuria? David Goldfarb

• 15:30-16:20: Discussion session: Cystinuria, rare kidney stones, and the international community: David Goldfarb, Sue Holden (Director, Cystinuria Support Network), and Matthew Lewis

APRT deficiency: Chair: Vidar Edvardsson and Runolfur Palsson (The National University Hospital of Iceland)

• 13:30-14:20 UK Renal Association and Rare Kidney Diseases: Shabbir Moochala (UCL)

Dent Disease and Lowe Syndrome: Chair John Lieske (Mayo Clinic), Lada Beara-Lasic

• 13:30-14:20: Review of Dent Disease and Lowe Syndrome: Disease mechanisms and treatment strategies: Lada Beara-Lasic

• 14:20-15:05: UK perspective: Detlef Bockenhauer (UCL)

• 15:05-15:45: The Rare Kidney Stone Consortium: How are we doing with Dent Disease: John Lieske

• 15.45-16:20: Discussion session: Dent disease, rare kidney stones, and the international community: Lada Beara-Lasic and John Lieske and Detlef Bockenhauer

Primary Hyperoxaluria: Chairs: Gill Rumsby (University College Hospital, UCH) and Hatem Ameer (Mayo Clinic)

• 13:30 -14:20: Review of PH: Disease mechanisms and treatment strategies: Gill Rumsby (UCH)

• 14:20-15:30: Transplantation strategies in PH: Hatem Ameer

• 15:30-16:20: Discussion session: PH, rare kidney stones, and the role of registries: Gill Rumsby and Hatem Ameer

14:20-17:00: Tea and ‘wind up’