Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Abstract:

:Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.

journal_name

Kidney Int

journal_title

Kidney international

authors

Eckardt KU,Alper SL,Antignac C,Bleyer AJ,Chauveau D,Dahan K,Deltas C,Hosking A,Kmoch S,Rampoldi L,Wiesener M,Wolf MT,Devuyst O,Kidney Disease: Improving Global Outcomes.

doi

10.1038/ki.2015.28

subject

Has Abstract

pub_date

2015-10-01 00:00:00

pages

676-83

issue

4

eissn

0085-2538

issn

1523-1755

pii

S2157-1716(15)32277-2

journal_volume

88

pub_type

共识发展会议,杂志文章,实务指引
  • Pivotal role of xanthine oxidase in the initiation of tubulointerstitial renal injury in rats with hyperlipidemia.

    abstract::Hyperlipidemia can induce or aggravate renal tubulointerstitial injury. Experiments in a complex rat model with chronic glomerulonephritis and long-standing, coexisting hyperlipidemia suggested that induction of xanthine oxidase (XO), with increased oxygen radical generation, is involved in aggravation of tubulointers...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/sj.ki.5000121

    authors: Gwinner W,Scheuer H,Haller H,Brandes RP,Groene HJ

    更新日期:2006-02-01 00:00:00

  • Prospective assessment of antidonor cellular alloreactivity is a tool for guidance of immunosuppression in kidney transplantation.

    abstract::Current characterization of the immune risk in renal transplant patients is only focused on the assessment of preformed circulating alloantibodies; however, alloreactive memory T cells are key players in mediating allograft rejection. Immune monitoring of antidonor alloreactive memory/effector T cells using an IFN-γ E...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.2013.236

    authors: Bestard O,Cruzado JM,Lucia M,Crespo E,Casis L,Sawitzki B,Vogt K,Cantarell C,Torras J,Melilli E,Mast R,Martinez-Castelao A,Gomà M,Reinke P,Volk HD,Grinyó JM

    更新日期:2013-12-01 00:00:00

  • Effect of a high NaCl diet on the active mechanisms of Na+ extrusion in rat kidney.

    abstract::Healthy male rats were exposed to a chronic ingesta of an isotonic NaCl solution during a period of four months. Two different preparations were utilized to study the effect of this treatment on the active mechanisms of Na+ reabsorption of kidney proximal tubular cells: outermost kidney cortex slices (rich in proximal...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1986.216

    authors: Marín R,Obando MA,Proverbio T,Proverbio F

    更新日期:1986-10-01 00:00:00

  • The AT2 gene may have a gender-specific effect on kidney function and pulse pressure in type I diabetic patients.

    abstract::Diabetic nephropathy shows a higher incidence in male subjects, which may in part be owing to genetic factors. The angiotensin II type 2 receptor (AT2), present in the renal glomerulus, may oppose the deleterious effects of the type I receptor (AT1) through vasodilatation and growth inhibition. We determined whether t...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/sj.ki.5000348

    authors: Pettersson-Fernholm K,Fröjdö S,Fagerudd J,Thomas MC,Forsblom C,Wessman M,Groop PH,FinnDiane Study Group.

    更新日期:2006-05-01 00:00:00

  • Quartan malarial nephrotic syndrome in children.

    abstract::Quartan malarial infection causes an immune complex nephritis in some individuals, which, once established, is sustained by mechanisms not yet fully explained, but which probably involve autoimmune processes. The presenting clinical and biochemical findings of the quartan malarial nephrotic syndrome are similar to tho...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1979.103

    authors: Hendrickse RG,Adeniyi A

    更新日期:1979-07-01 00:00:00

  • Tenofovir nephrotoxicity: acute tubular necrosis with distinctive clinical, pathological, and mitochondrial abnormalities.

    abstract::Tenofovir, a widely prescribed antiretroviral medication for treatment of HIV-1 infection, is infrequently associated with renal dysfunction and biopsy findings of acute tubular necrosis. We examined the clinical and pathological findings in 13 cases of tenofovir nephrotoxicity (7 men and 6 women, mean age of 51.1±9.6...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.2010.318

    authors: Herlitz LC,Mohan S,Stokes MB,Radhakrishnan J,D'Agati VD,Markowitz GS

    更新日期:2010-12-01 00:00:00

  • National trends in acute kidney injury requiring dialysis in England between 1998 and 2013.

    abstract::Acute kidney injury (AKI) severe enough to require dialysis is increasing and associated with high mortality, yet robust information about temporal epidemiology of AKI requiring dialysis in England is lacking. In this retrospective observational study of the Hospital Episode Statistics (HES) data set covering the enti...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.2015.234

    authors: Kolhe NV,Muirhead AW,Wilkes SR,Fluck RJ,Taal MW

    更新日期:2015-11-01 00:00:00

  • The emerging role of phosphate in vascular calcification.

    abstract::Vascular calcification is recognized as a major contributor to cardiovascular disease (CVD) in end stage renal disease (ESRD) patients. Susceptibility to vascular calcification is genetically determined and actively regulated by diverse inducers and inhibitors. One of these inducers, hyperphosphatemia, promotes vascul...

    journal_title:Kidney international

    pub_type: 杂志文章,评审

    doi:10.1038/ki.2008.644

    authors: Giachelli CM

    更新日期:2009-05-01 00:00:00

  • Direct vasopressor effect of recombinant human erythropoietin on renal resistance vessels.

    abstract::The contractile properties of recombinant human erythropoietin (rHuEPO) on isolated resistance vessels of renal and mesenteric vascular beds were studied in an in vitro model using a small vessel myograph. Under isometric conditions, rHuEPO caused a contraction of this vasculature in a concentration range between 10 U...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1991.31

    authors: Heidenreich S,Rahn KH,Zidek W

    更新日期:1991-02-01 00:00:00

  • Protein synthesis and degradation in skeletal muscle of chronically uremic rats.

    abstract::We used the perfused hemicorpus preparation to measure individual rates of protein synthesis and degradation. Using fed animals, perfused either with or without insulin, muscle protein synthesis and hemicorpus protein degradation rates were similar, but myofibrillar protein degradation was clearly increased in the ure...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1986.119

    authors: Li JB,Wassner SJ

    更新日期:1986-06-01 00:00:00

  • Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13.

    abstract:BACKGROUND:Familial nephrotic syndrome (NS) has both autosomal dominant and recessive forms of inheritance. Recent studies in families with an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) have been at odds concerning linkage to chromosome 19q13 (Mathis et al, Kidney Int 53:282-286, 1998; Winn et...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1046/j.1523-1755.2000.057003875.x

    authors: Vats A,Nayak A,Ellis D,Randhawa PS,Finegold DN,Levinson KL,Ferrell RE

    更新日期:2000-03-01 00:00:00

  • Poor accordance to a DASH dietary pattern is associated with higher risk of ESRD among adults with moderate chronic kidney disease and hypertension.

    abstract::The Dietary Approaches to Stop Hypertension (DASH) diet lowers blood pressure, an important risk factor for chronic kidney disease (CKD) and end-stage renal disease (ESRD). However, it is unclear whether adherence to a DASH diet confers protection against future ESRD, especially among those with pre-existing CKD and h...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1016/j.kint.2018.12.027

    authors: Banerjee T,Crews DC,Tuot DS,Pavkov ME,Burrows NR,Stack AG,Saran R,Bragg-Gresham J,Powe NR,Centers for Disease Control and Prevention Chronic Kidney Disease Surveillance Team.

    更新日期:2019-06-01 00:00:00

  • Regulatory interactions between inducible nitric oxide synthase and eicosanoids in glomerular immune injury.

    abstract::In a rat model of glomerular immune injury induced by administration of anti-glomerular basement membrane antibody and resembling human rapidly progressive glomerulonephritis, we explored whether activation of inducible nitric oxide synthase (iNOS) regulates synthesis of eicosanoids originating from cyclooxygenation o...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1046/j.1523-1755.1998.00791.x

    authors: Lianos EA,Guglielmi K,Sharma M

    更新日期:1998-03-01 00:00:00

  • Malignancy-related mortality following kidney transplantation is common.

    abstract::There is a paucity of studies describing malignancy-related mortality after kidney transplantation. To help quantify this, we extracted data for all kidney-alone transplant procedures performed in England between April 2001 and March 2012. Data linkage analysis was performed between Hospital Episode Statistics and the...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.2013.458

    authors: Farrugia D,Mahboob S,Cheshire J,Begaj I,Khosla S,Ray D,Sharif A

    更新日期:2014-06-01 00:00:00

  • Regulation of mesangial cell proliferation.

    abstract::Regardless of the source of injury, an imbalance in the control of mesangial cell proliferation appears to play a direct role in the degree of progressive renal injury and glomerulosclerosis. Some of the regulatory mechanisms include specific soluble or non-soluble extracellular factors and a complex array of receptor...

    journal_title:Kidney international

    pub_type: 杂志文章,评审

    doi:10.1046/j.1523-1755.1999.00710.x

    authors: Schöcklmann HO,Lang S,Sterzel RB

    更新日期:1999-10-01 00:00:00

  • TGF-beta-activating kinase-1 inhibits cell cycle and expression of cyclin D1 and A in LLC-PK1 cells.

    abstract:BACKGROUND:Transforming growth factor-beta (TGF-beta) is known to play an important role in the pathophysiology of renal tubular disease. Researchers have recently identified a novel mitogen-activated protein kinase kinase kinase (MAPKKK), TAK (TGF-beta activated kinase)1, which stimulates the MKK3/6-p38K pathway. The ...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1046/j.1523-1755.1999.00665.x

    authors: Terada Y,Nakashima O,Inoshita S,Kuwahara M,Sasaki S,Marumo F

    更新日期:1999-10-01 00:00:00

  • Cytoprotective effects of adrenomedullin in glomerular cell injury: central role of cAMP signaling pathway.

    abstract::Activation of cAMP signaling pathway was shown to inhibit some pathobiologic processes in mesangial cells (MC). We investigated whether adrenomedullin (ADM), a potent agonist of adenylate cyclase, is synthesized in MC and whether it can, via cAMP, suppress the generation of reactive oxygen metabolites (ROM) and prolif...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1997.413

    authors: Chini EN,Chini CC,Bolliger C,Jougasaki M,Grande JP,Burnett JC Jr,Dousa TP

    更新日期:1997-10-01 00:00:00

  • IgG4-related tubulointerstitial nephritis.

    abstract::Tubulointerstitial nephritis (TIN) is a disease pattern with heterogeneous causes. Recently a specific subtype of autoimmune TIN, IgG4-related TIN, has been identified that is part of systemic IgG4-related disease/ autoimmune pancreatitis. On biopsy, this TIN shows an IgG4+ plasma cell-rich infiltrate, akin to the pan...

    journal_title:Kidney international

    pub_type: 评论,杂志文章

    doi:10.1038/ki.2010.342

    authors: Cornell LD

    更新日期:2010-11-01 00:00:00

  • Subcellular localization of glucocorticoid receptor protein in the human kidney glomerulus.

    abstract:BACKGROUND:The detailed mechanisms of glucocorticoid action in idiopathic nephrotic syndrome and progressive glomerulonephritides have not been clearly elucidated. The pharmacological actions of glucocorticoids are mediated by their binding to an intracellular protein, the glucocorticoid receptor (GR). The determinatio...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1046/j.1523-1755.1999.00503.x

    authors: Yan K,Kudo A,Hirano H,Watanabe T,Tasaka T,Kataoka S,Nakajima N,Nishibori Y,Shibata T,Kohsaka T,Higashihara E,Tanaka H,Watanabe H,Nagasawa T,Awa S

    更新日期:1999-07-01 00:00:00

  • Improvement of extraction and processing of RNA from renal biopsies.

    abstract:BACKGROUND:Assessment of mRNA levels has the potential to predict renal outcome. The objective of this study was to optimize several steps in the protocol for obtaining cDNA from routine clinical kidney biopsy material. METHODS:RNA integrity was compared between different methods for extraction of RNA, synthesis of cD...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1111/j.1523-1755.2004.00366.x

    authors: Roos-van Groningen MC,Eikmans M,Baelde HJ,de Heer E,Bruijn JA

    更新日期:2004-01-01 00:00:00

  • The hypoxia-inducible factor-1 DNA recognition site is cAMP-responsive.

    abstract::The hypoxia-inducible factor-1 (HIF-1) was first described as a DNA binding activity that specifically recognizes an 8 bp hypoxia response element (HRE) known to be essential for oxygen-regulated erythropoietin gene expression. In electrophoretic mobility shift assays (EMSAs) HIF-1 DNA binding activity is only detecta...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1997.80

    authors: Kvietikova I,Wenger RH,Marti HH,Gassmann M

    更新日期:1997-02-01 00:00:00

  • Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease.

    abstract::Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive enlargement of kidney cysts leading to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Identification of an early biomarker that can predict progression of CKD is urgently needed. In an earlier Consortium for Radiolog...

    journal_title:Kidney international

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.kint.2017.09.027

    authors: Yu ASL,Shen C,Landsittel DP,Harris PC,Torres VE,Mrug M,Bae KT,Grantham JJ,Rahbari-Oskoui FF,Flessner MF,Bennett WM,Chapman AB,Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP).

    更新日期:2018-03-01 00:00:00

  • A 10-year follow-up of a randomized study with methylprednisolone and chlorambucil in membranous nephropathy.

    abstract::The natural course of idiopathic membranous nephropathy is variable, with some patients slowly progressing to renal failure while others maintain normal renal function over the entire time. Whether to treat this disease or not is controversial due to the lack of controlled data about the long-term effects of treatment...

    journal_title:Kidney international

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1038/ki.1995.453

    authors: Ponticelli C,Zucchelli P,Passerini P,Cesana B,Locatelli F,Pasquali S,Sasdelli M,Redaelli B,Grassi C,Pozzi C

    更新日期:1995-11-01 00:00:00

  • The cystic fibrosis transmembrane conductance regulator mediates transepithelial fluid secretion by human autosomal dominant polycystic kidney disease epithelium in vitro.

    abstract::Transepithelial fluid secretion promotes the progressive enlargement of cysts in autosomal dominant polycystic kidney disease (ADPKD). Recent indirect evidence indicated that active chloride transport may drive net fluid secretion in cultures of epithelia derived from ADPKD cysts. We now report that forskolin, which s...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1996.304

    authors: Davidow CJ,Maser RL,Rome LA,Calvet JP,Grantham JJ

    更新日期:1996-07-01 00:00:00

  • Impaired in vivo antibody production in CRF rats: role of secondary hyperparathyroidism.

    abstract::Antibody responses to antigens are impaired in humans and animals with chronic renal failure (CRF), and parathyroid hormone (PTH) inhibits Staphylococcus aureus Cowan I (SAC) or pokeweed mitogen (PWM)-induced antibody production by B cells from normal subjects. Since CRF is associated with secondary hyperparathyroidis...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1991.286

    authors: Gaciong Z,Alexiewicz JM,Massry SG

    更新日期:1991-11-01 00:00:00

  • Predictors and consequences of altered mineral metabolism: the Dialysis Outcomes and Practice Patterns Study.

    abstract:BACKGROUND:Altered mineral metabolism contributes to bone disease, cardiovascular disease, and other clinical problems in patients with end-stage renal disease. METHODS:This study describes the recent status, significant predictors, and potential consequences of abnormal mineral metabolism in representative groups of ...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1111/j.1523-1755.2005.00185.x

    authors: Young EW,Albert JM,Satayathum S,Goodkin DA,Pisoni RL,Akiba T,Akizawa T,Kurokawa K,Bommer J,Piera L,Port FK

    更新日期:2005-03-01 00:00:00

  • Effects of rhGH and rhIGF-1 on renal growth and morphology.

    abstract::It is known that in rodents recombinant human growth hormone (rhGH) and recombinant human insulin-like growth factor (rhIGF-1) increase renal mass. It is uncertain, however, whether renal mass increases in proportion to body growth, or whether renal growth is stimulated selectively. In 120 to 150 g female Sprague-Dawl...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1993.376

    authors: Mehls O,Irzynjec T,Ritz E,Eden S,Kovàcs G,Klaus G,Floege J,Mall G

    更新日期:1993-12-01 00:00:00

  • Distribution of pyruvate carboxylase along the rat nephron: an immunological and enzymatic study.

    abstract::Antibodies against purified rat-kidney-cortex pyruvate carboxylase were raised in rabbits. These polyspecific antibodies recognize pyruvate carboxylase enzymes alone without cross reactivity with other carboxylases as detected by immunoblotting. The abundance of pyruvate carboxylase in the various renal fractions was ...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/ki.1991.147

    authors: Salto R,Oliver J,del Mar Sola M,Vargas AM

    更新日期:1991-06-01 00:00:00

  • Aboriginal patients on the road to kidney transplantation: is residence location a barrier?

    abstract::Aboriginal dialysis patients have reduced access to kidney transplantation. The reasons for this disparity are unknown. Tonelli et al. show that in Canada, residence location does not significantly impact on an Aboriginal dialysis patient's likelihood of receiving kidney transplantation. This Commentary explores the i...

    journal_title:Kidney international

    pub_type: 评论,杂志文章

    doi:10.1038/sj.ki.5001762

    authors: Yeates KE

    更新日期:2006-09-01 00:00:00

  • Intrauterine growth retardation aggravates the course of acute mesangioproliferative glomerulonephritis in the rat.

    abstract::Intrauterine growth retardation (IUGR) aggravates the course of acute mesangioproliferative glomerulonephritis (GN) in the rat. Observational studies in children suggest that IUGR may be associated with a severe course of kidney diseases such as IgA nephropathy. We tested the hypothesis that IUGR leads to aggravation ...

    journal_title:Kidney international

    pub_type: 杂志文章

    doi:10.1038/sj.ki.5001966

    authors: Plank C,Ostreicher I,Hartner A,Marek I,Struwe FG,Amann K,Hilgers KF,Rascher W,Dötsch J

    更新日期:2006-12-01 00:00:00