Rare Disease Group - Tubulopathy
The Tubulopathy Rare Disease Group was previously known as Hypokalaemic Alkaloses. In 2025, the Dent & Lowe Rare Disease Group was merged into Tubulopathy.
The Tubulopathy Rare Disease Group, previously known as Hypokalaemic Alkaloses, covers the following conditions:
- Autoimmune distal renal tubular acidosis
- Autosomal dominant distal renal tubular acidosis
- Autosomal recessive distal renal tubular acidosis
- Autosomal recessive proximal renal tubular acidosis
- Bartter syndrome
- Bartter Syndrome - Type 2
- Bartter Syndrome - Type 3
- Bartter Syndrome - Type 4a
- Bartter Syndrome - Type 4b
- Dent Disease
- Dent Disease and Lowe Syndrome
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- Drug induced Fanconi syndrome
- Drug induced hypomagnesemia
- Drug induced Nephrogenic Diabetes Insipidus
- EAST Syndrome
- Familial hypomagnesaemia
- Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis CLDN16/19
- 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 hypophosphatemic rickets with hypercalciuria
- Hypophosphataemic rickets autosomal recessive (AR)
- Hypophosphataemic rickets X-linked (XL)
- Isolated autosomal dominant hypomagnesemia, Glaudemans type
- Liddle Syndrome
- Lowe Syndrome (Oculocerebrorenal Syndrome)
- Nephrogenic diabetes insipidus
- Nephrogenic syndrome of inappropriate antidiuresis
- Other Primary Renal Fanconi Syndrome
- Primary hypomagnesemia with secondary hypocalcemia
- Pseudohypoaldosteronism type 2A
- Pseudohypoaldosteronism type 2B
- Pseudohypoaldosteronism type 2C
- Pseudohypoaldosteronism type 2D
- 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.
Care Plans
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.
- Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Zaniew, M. et al (2016) Nephrol Dial Transplan.
- 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
The Lowe Trust supports families and initiates and funds medical research into Lowe Syndrome.
Reports
| RDG Lead(s) |
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| Patient representative(s) |
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| Other members |
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- Trustee of RA: Charlie Tomson and Fiona Karet
- Trustee of KRUK: Fiona Karet
- Speaker fees from Amgen and Novartis: John Sayer