Rare Disease Group
Note the Tubulopathy Rare Disease Group was previously known as Hypokalaemic Alkaloses
The newly renamed Tubulopathy Rare Disease Group, previously known as Hypokalaemic Alkaloses, has recently expanded it’s inclusion criteria for RaDaR. The cohort now covers the following conditions:
- Autoimmune distal renal tubular acidosis
- Autosomal dominant distal renal tubular acidosis
- Autosomal recessive distal renal tubular acidosis
- Autosomal recessive distal renal tubular acidosis
- Bartter Syndrome Type 1
- Bartter Syndrome Type 2
- Bartter Syndrome Type 3
- Bartter Syndrome Type 4
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- Drug induced Fanconi syndrome
- Drug induced hypomagnesemia
- Drug induced Nephrogenic Diabetes Insipidus
- EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy)
- Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis CLDN16/19
- Familial primary hypomagnesemia with hypocalcuria FXYD2
- Familial primary hypomagnesemia with normocalcuria EGF
- Familial renal glucosuria SLC5A2
- Fanconi Renotubular syndrome 1 (FRTS1)
- Fanconi Renotubular syndrome 2 (FRTS2)
- Fanconi Renotubular syndrome 3 (FRTS3)
- Generalized pseudohypoaldosteronism type 1
- Gitelman Syndrome
- Heavy metal induced Fanconi syndrome
- Hereditary renal hypouricemia
- Hereditary hypophosphatemic rickets with hypercalciuria
- Isolated autosomal dominant hypomagnesemia, Glaudemans type
- Liddle syndrome
- Nephrogenic diabetes insipidus
- Nephrogenic syndrome of inappropriate antidiuresis
- Oncogenic osteomalacia
- Osteopetrosis with renal tubular acidosis
- Primary hypomagnesemia with secondary hypocalcemia
- Pseudohypoaldosteronism type 2A
- Pseudohypoaldosteronism type 2B
- Pseudohypoaldosteronism type 2C
- Pseudohypoaldosteronism type 2E
- Renal pseudohypoaldosteronism type 1
They are all rare conditions 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.
Working with Dr Jasmeet Soar (an anaesthetist), Drs Hugh Gallagher Pseudohypoaldosteronism type 2D 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 includes recommendations 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.
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]
- 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
- Mr Allen Darrell, Consultant stone urologist Royal Free Campus and Hospital, London
- Dr Hugh Gallagher, St Helier Hospital, Surrey
- Natalie Gee, Patient Representative
- Dr Mark Glover, Consultant Clinical Pharmacologist, Queen’s Medical Centre, Nottingham,
- Michael Howard, Patient Representative
- Dr Sally-Anne Hulton, Consultant Paediatric Nephrologist, Birmingham Children’s Hospital
- Prof Fiona Karet, Cambridge Institute for Medical Research, Addenbrooke’s Hospital
- 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 Hospital, London
- Dr Ben Walsh, Centre for Nephrology, Royal Free Hospital, London RDG Lead
- Trustee of RA: Charlie Tomson and Fiona Karet
- Trustee of KRUK: Fiona Karet
- Speaker fees from Amgen and Novartis: John Sayer