Hypokalaemic Alkaloses – RDG
- Aims of the Group
The Hypokalaemic Alkaloses Rare Disease Group provides expertise in Bartter and Gitelman syndromes and some other very rare conditions. These all affect the kidney’s ability to keep salt and other electrolytes in balance. These conditions are connected by a low concentration of potassium in the blood plasma.
1. The term ‘salt wasting alkaloses’ covers a group of disorders, the majority of which lower blood pressure and in fact lower potassium and/or magnesium. There are several types:
- Gitelman syndrome
- Types 1 and 2 Bartter syndrome
- Type 3 Bartter syndrome
- Type 4 Bartter syndrome
- EAST syndrome
2. Hypokalaemia with salt retention, in which there is high blood pressure:
- Liddle syndrome
They are all rare and need to be diagnosed and managed correctly, as every patient is slightly different in the treatment they need. This particular rare disease group hopes to increase knowledge about these disorders, and set up clinical studies to improve outcome.
- Current Activities
Working with Dr Jasmeet Soar (an anaesthetist), Drs Hugh Gallagher and Charlie Tomson have written a clinical guideline for the perioperative management of people with inherited saltwasting alkaloses (Gitelman’s syndrome and Bartter’s syndrome) undergoing non-urgent surgical procedures. It includesrecommendations on pre-operative assessment, minimum acceptable levels of potassium and magnesium and intra- and post- procedural monitoring. The guideline has been endorsed by the Renal Association and the Royal College of Anaesthetists. The aim is to improve the current inconsistent approach whereby patients with saltwasting alkaloses may be denied surgery on the basis of chronic and stable metabolic abnormalities.
- International Links
- Patient Support Groups
The third Gitelman and Bartter Syndrome Patient Information Day was held on Saturday 3rd December 2016 at Resource for London, 356 Holloway Road, London, N7 6PA, from 10.30 – 4.00pm. For further details please click here or visit the Gitelman Syndrome Online website.
The second Gitelman and Bartter Syndrome Patient Information Day was held on Saturday 13th June 2015 at the Resource for London. A report of the day can be found on the Gitelman Syndrome Online website.
A report of the first Patient Information Day from 2011 can be found here.
Kleta R, Bockenhauer D. Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial? J Am Soc Nephrol. 2018;29:727-739.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R. Clinical and Genetic Spectrum of Bartter Syndrome Type 3. J Am Soc Nephrol. 2017;28:2540-2552.
Iqbal Z, Sayer JA. Chondrocalcinosis and Gitelman syndrome. QJM. 2016;109:563-4.
Iqbal Z, Mead P, Sayer JA. Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. F1000Res. 2016;5:875.
Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017;91:24-33.
Robinson CM, Karet Frankl FE. Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. Nephrol Dial Transplant. 2017;32:508-512.
Berry MR, Robinson C, Karet Frankl FE. Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. Nephrol Dial Transplant. 2013. [Epub ahead of print]
Bockenhauer D, et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med. 2009;360:1960-70. [E-journal]
- Group Members
- Ms Emily Bean, Patient Representative
- Dr Detlef Bockenhauer, Department of Nephrology, Great Ormond St Hospital
- Ms Claire Chapman, Group Administrator
- Dr A. Christopher Clifford, Patient Representative
- Dr Hugh Gallagher, St Helier Hospital, Surrey
- Natalie Gee, Patient Representative
- Dr Sally-Anne Hulton, Consultant Paediatric Nephrologist, Birmingham Children’s Hospital
- Prof Fiona Karet, Cambridge Institute for Medical Research, Addenbrooke’s Hospital RDG Lead
- Prof Robert Kleta, University College, London
- Dr Chris Laing, Centre for Nephrology, Royal Free Hospital, London
- Ms Clare Parslow, Dietitian, Addenbrooke’s Hospital, Cambridge
- Prof. Chris Pugh, Henry Wellcome Building for Molecular Physiology, Oxford
- Dr Venkat Raman, Consultant Nephrologist, Queen Alexandra Hospital, Portsmouth
- Sister Caroline Robinson, Specialist Nurse, Addenbrooke’s Hospital, Cambridge
- Dr John Sayer, Institute of Genetic Medicine, Newcastle University
- Dr Charlie Tomson, Department of Renal Medicine, Southmead Hospital, Bristol
- Prof Robert Unwin, Centre for Nephrology, Royal Free Campus and Hospital, London
- Disclosure of Conflicts of Interest
- Trustee of RA: Charlie Tomson and Fiona Karet
- Trustee of KRUK: Fiona Karet
- Speaker fees from Amgen and Novartis: John Sayer
Written by the Hypokalaemic Alkaloses Rare Disease Group