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.

TBC

Pending

TBC

Publications

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]

Websites

www.gitelmansyndrome.co.uk

Reports

Tubulopathy RDG Annual Report 2019 – 2020

• Trustee of RA: Charlie Tomson and Fiona Karet
• Trustee of KRUK: Fiona Karet
• Speaker fees from Amgen and Novartis: John Sayer