A review on autosomal dominant tubulointerstitial kidney disease.

Abstract In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4 genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis. In this article, we present a review of the guidelines and the literature, and some practical recommendations for dealing with this disease.

• Publication year

  2017

• Venue

  Nefrologia

• Publication date

  2017-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/J.NEFROE.2017.05.012
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Autosomal Dominant Tubulointerstitial Kidney Disease.

  2017cited by this paper
• SP001ALTERATIONS OF ION TRANSPORTERS IN CELLS OF THICK ASCENDING LIMB IN AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE - UMOD

  2016cited by this paper
• Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related

  2016cited by this paper
• Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules!

  2016cited by this paper
• Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

  2016cited by this paper
• Efficacy of Febuxostat for Slowing the GFR Decline in Patients With CKD and Asymptomatic Hyperuricemia: A 6-Month, Double-Blind, Randomized, Placebo-Controlled Trial.

  2015cited by this paper
• Nephronophthisis and related syndromes

  2015cited by this paper
• Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

  2015cited by this paper
• Uromodulin: from monogenic to multifactorial diseases.

  2015cited by this paper
• Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

  2014cited by this paper
• The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

  2014cited by this paper
• Variable presentations of rare genetic renal interstitial diseases.

  2014cited by this paper
• Autosomal dominant tubulointerstitial kidney disease: of names and genes.

  2014cited by this paper
• Uromodulin: old friend with new roles in health and disease

  2014cited by this paper
• Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

  2014cited by this paper
• Nefropatía intersticial crónica familiar con hiperuricemia causada por el gen UMOD

  2013cited by this paper
• Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

  2013cited by this paper
• Association between genotype and phenotype in uromodulin-associated kidney disease.

  2013cited by this paper
• A systematic review and meta-analysis on the safety and efficacy of febuxostat versus allopurinol in chronic gout.

  2013cited by this paper
• Uromodulin in kidney injury: an instigator, bystander, or protector?

  2012cited by this paper
• Evolving concepts on regulation and function of renin in distal nephron

  2012cited by this paper
• Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

  2011cited by this paper
• Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

  2011cited by this paper
• Tubulointerstitial injury and the progression of chronic kidney disease

  2011cited by this paper
• Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

  2011cited by this paper
• The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

  2011cited by this paper
• Uromodulin-Associated Kidney Disease

  2010cited by this paper
• Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

  2010cited by this paper
• Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

  2010cited by this paper
• Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

  2010cited by this paper
• Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

  2009cited by this paper
• Uromodulin storage disease.

  2008cited by this paper
• A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

  2005cited by this paper
• A transcriptional network in polycystic kidney disease

  2004cited by this paper
• A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

  2003cited by this paper
• Nefronoptisis y enfermedad quística medular: aspectos genéticos

  2003cited by this paper
• [Nephronophthisis and medullar cystic disease: genetic aspects].

  2003cited by this paper
• Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

  2002cited by this paper
• Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

  2002cited by this paper
• Hepatocyte Nuclear Factor-1β: A New Kindred with Renal Cysts and Diabetes and Gene Expression in Normal Human Development

  2001cited by this paper
• Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

  2001cited by this paper
• Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

  1998cited by this paper
• The nephronophthisis complex: clinical and genetic aspects

  1992cited by this paper

• Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

  2022cites this paper
• More dissimilarities than affinities between DNAJB11-PKD and ADPKD

  2022cites this paper
• Autosomal dominant tubulointerstitial kidney disease

  2020influential citation
• Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy

  2020cites this paper
• Predictors of Hyperuricemia after Kidney Transplantation: Association with Graft Function

  2020cites this paper
• Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease.

  2020cites this paper
• Nefropatías congénitas y hereditarias (II): enfermedad quística

  2019cites this paper
• AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

  2018cites this paper
• Uromodulin-related autosomal-dominant tubulointerstitial kidney disease—pathogenetic insights based on a case

  2018cites this paper