Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report (Q28258261)

13

Olivier Devuyst

0 references

Luca Rampoldi

Luca Rampoldi

10

0 references

Constantinos Deltas

Constantinos Deltas

7

0 references

Kai-Uwe Eckardt

1

Kai-Uwe Eckardt

0 references

author name string

Seth L Alper

2

0 references

Anthony J Bleyer

4

0 references

Dominique Chauveau

5

0 references

Karin Dahan

6

0 references

Andrew Hosking

8

0 references

Stanislav Kmoch

9

0 references

Michael Wiesener

11

0 references

Matthias T Wolf

Cystic disease of renal medulla.

12

0 references

language of work or name

English

0 references

publication date

October 2015

0 references

published in

Kidney International

0 references

volume

88

0 references

issue

4

0 references

page(s)

676-83

0 references

cites work

1 reference

12 December 2020

MUC1 mucin and trefoil factor 1 protein expression in renal cell carcinoma: correlation with prognosis

1 reference

12 December 2020

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

1 reference

12 December 2020

Activation of the Bumetanide-sensitive Na ,K ,2Cl− Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner

1 reference

12 December 2020

Uromodulin storage disease

1 reference

12 December 2020

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

1 reference

12 December 2020

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

1 reference

12 December 2020

MUC1 expression is correlated with nuclear grade and tumor progression in pT1 renal clear cell carcinoma

1 reference

12 December 2020

Rare inherited kidney diseases: challenges, opportunities, and perspectives

1 reference

12 December 2020

Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1

1 reference

12 December 2020

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

1 reference

12 December 2020

Familial occurrence of hyperuricemia, gout, and medullary cystic disease

1 reference

12 December 2020

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

1 reference

12 December 2020

Uricosuric action of losartan via the inhibition of urate transporter 1 (URAT 1) in hypertensive patients

1 reference

12 December 2020

A systematic review and meta-analysis on the safety and efficacy of febuxostat versus allopurinol in chronic gout

1 reference

12 December 2020

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

1 reference

12 December 2020

Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development

1 reference

12 December 2020

Uromodulin storage diseases: clinical aspects and mechanisms

1 reference

12 December 2020

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

1 reference

12 December 2020

Hereditary Interstitial Kidney Disease

1 reference

12 December 2020

Evolving concepts on regulation and function of renin in distal nephron

1 reference

12 December 2020

Familial hyperuricemia and renal disease

1 reference

12 December 2020

Population-based screening for family history of end-stage renal disease among incident dialysis patients

1 reference

12 December 2020

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy

1 reference

12 December 2020

Disruption of Npr1 gene differentially regulates the juxtaglomerular and distal tubular renin levels in null mutant mice

1 reference

12 December 2020

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

1 reference

12 December 2020

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

1 reference

12 December 2020

PharmGKB summary: uric acid-lowering drugs pathway, pharmacodynamics

1 reference

12 December 2020

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

1 reference

12 December 2020

Abnormal serum uric acid levels in children

1 reference

12 December 2020

A transcriptional network in polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis

1 reference

12 December 2020

Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

1 reference

12 December 2020

Evolution of Clinical Signs in Adult-Onset Cystic Disease of the Renal Medulla

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective intracellular trafficking of uromodulin mutant isoforms

1 reference

12 December 2020

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

1 reference

12 December 2020

Association between genotype and phenotype in uromodulin-associated kidney disease

1 reference

12 December 2020

Clinical and genetic characterization of an autosomal dominant nephropathy

1 reference

12 December 2020

Uromodulin-associated kidney disease

1 reference

12 December 2020

Deletion of von Hippel-Lindau protein converts renin-producing cells into erythropoietin-producing cells

1 reference

12 December 2020

Multiple loci associated with indices of renal function and chronic kidney disease

1 reference

12 December 2020

Polycystic kidney disease in 2011: Connecting the dots toward a polycystic kidney disease therapy

1 reference

12 December 2020

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

1 reference

12 December 2020

The HNF1B score is a simple tool to select patients for HNF1B gene analysis

1 reference

12 December 2020

Evolving importance of kidney disease: from subspecialty to global health burden

1 reference

12 December 2020

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

1 reference

12 December 2020

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

1 reference

12 December 2020

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

1 reference

12 December 2020

Disease burden and risk profile in referred patients with moderate chronic kidney disease: composition of the German Chronic Kidney Disease (GCKD) cohort

1 reference

12 December 2020

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin

1 reference

12 December 2020

Autosomal dominant tubulointerstitial kidney disease: of names and genes

1 reference

12 December 2020

Effects of losartan and irbesartan on serum uric acid in hypertensive patients with hyperuricaemia in Chinese population

1 reference

12 December 2020

Paradoxical response to furosemide in uromodulin-associated kidney disease

1 reference

12 December 2020

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

1 reference

12 December 2020

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

1 reference

12 December 2020

The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

1 reference

12 December 2020

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

1 reference

12 December 2020