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

被引：232

作者：

Eckardt, Kai-Uwe ^{[1
]}

Alper, Seth L. ^{[2
,3
,4
]}

Antignac, Corinne ^{[5
,6
]}

Bleyer, Anthony J. ^{[7
]}

Chauveau, Dominique ^{[8
]}

Dahan, Karin ^{[9
]}

Deltas, Constantinos ^{[10
,11
]}

Hosking, Andrew ^{[12
]}

Kmoch, Stanislav ^{[13
]}

Rampoldi, Luca ^{[14
]}

Wiesener, Michael ^{[1
]}

Wolf, Matthias T. ^{[15
]}

Devuyst, Olivier ^{[16
]}

机构：

[1] Univ Erlangen Nurnberg, Dept Nephrol & Hypertens, Ulmenweg 18, D-91054 Erlangen, Germany

[2] Beth Israel Deaconess Med Ctr, Div Nephrol, Boston, MA 02215 USA

[3] Beth Israel Deaconess Med Ctr, Div Mol & Vasc Med, Boston, MA 02215 USA

[4] Harvard Univ, Sch Med, Boston, MA USA

[5] INSERM, U1163, Lab Hereditary Kidney Dis, Paris, France

[6] Paris Descartes Univ, Imagine Inst, Paris, France

[7] Wake Forest Sch Med, Nephrol Sect, Winston Salem, NC USA

[8] CHU Rangueil, Dept Nephrol & Transplantat Organes, F-31054 Toulouse, France

[9] Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium

[10] Univ Cyprus, Mol Med Res Ctr, Dept Biol Sci, Nicosia, Cyprus

[11] Univ Cyprus, Lab Mol & Med Genet, Nicosia, Cyprus

[12] UKD Fdn, New York, NY USA

[13] Charles Univ Prague, Inst Inherited Metab Disorders, Prague, Czech Republic

[14] IRCCS, San Raffaele Sci Inst, Dulbecco Telethon Inst, Mol Genet Renal Disorders Unit,Div Genet & Cell B, Milan, Italy

[15] Univ Texas SW Med Ctr Dallas, Div Pediat Nephrol, Dallas, TX 75390 USA

[16] Univ Zurich, Inst Physiol, Zurich, Switzerland

来源：

KIDNEY INTERNATIONAL | 2015年 / 88卷 / 04期

关键词：

genetics; hepatocyte nuclear factor-1 beta; kidney disease; mucin-1; renin; uromodulin; JUVENILE HYPERURICEMIC NEPHROPATHY; TAMM-HORSFALL PROTEIN; SERUM URIC-ACID; CYSTIC-DISEASE; UMOD GENE; MUTATIONS; EXPRESSION; RENIN; TYPE-2; PHENOTYPE;

D O I：

10.1038/ki.2015.28

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1 beta (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.

引用

页码：676 / 683

页数：8

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