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Inherited renal tubular disease

MedGen UID:
1826140
•Concept ID:
C5680544
•
Disease or Syndrome
Synonyms: genetic renal tubular disease; Genetic renal tubular disease; inherited renal tubular disease
 
Monarch Initiative: MONDO:0015962
Orphanet: ORPHA183592

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Inherited renal tubular disease

Professional guidelines

PubMed

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S
Eur J Neurol 2024 Jul;31(7):e16275. Epub 2024 Apr 4 doi: 10.1111/ene.16275. PMID: 38576261Free PMC Article
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.
Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D
Kidney Int 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035. PMID: 33509356

Recent clinical studies

Etiology

Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations.
Miao Z, Gao Y, Bindels RJ, Yu W, Lang Y, Chen N, Ren H, Sun F, Li Y, Wang X, Shao L
Eur J Endocrinol 2009 Aug;161(2):275-83. Epub 2009 May 18 doi: 10.1530/EJE-09-0271. PMID: 19451210

Diagnosis

Glomerular podocyte dysfunction in inherited renal tubular disease.
Huang LM, Mao JH
World J Pediatr 2021 Jun;17(3):227-233. Epub 2021 Feb 24 doi: 10.1007/s12519-021-00417-0. PMID: 33625696Free PMC Article
Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations.
Miao Z, Gao Y, Bindels RJ, Yu W, Lang Y, Chen N, Ren H, Sun F, Li Y, Wang X, Shao L
Eur J Endocrinol 2009 Aug;161(2):275-83. Epub 2009 May 18 doi: 10.1530/EJE-09-0271. PMID: 19451210

Prognosis

Glomerular podocyte dysfunction in inherited renal tubular disease.
Huang LM, Mao JH
World J Pediatr 2021 Jun;17(3):227-233. Epub 2021 Feb 24 doi: 10.1007/s12519-021-00417-0. PMID: 33625696Free PMC Article

Supplemental Content

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    Clinical resources

    Practice guidelines

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    Reviews

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    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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