ReviewSeminars in nephrology2010
Hereditary interstitial kidney disease.
Review in Seminars in nephrology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.Kidney international · 2015Guideline
- A case of ADTKD-UMOD presenting with focal segmental glomerulosclerosis in a young male with a positive family history.BMC nephrology · 2026Article
- Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.Pediatric nephrology (Berlin, Germany) · 2022Review
- Serum uromodulin and decline of kidney function in older participants of the population-based KORA F4/FF4 study.Clinical kidney journal · 2021Article
- Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease.Kidney international reports · 2020Article
- Personalized medicine in chronic kidney disease by detection of monogenic mutations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2020Review
- Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.Scientific reports · 2019Article
- Article
- Serum uromodulin-a marker of kidney function and renal parenchymal integrity.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2018Article
- Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis.Case reports in nephrology · 2018Article
- Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease.Chinese medical journal · 2017Article
- Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.Journal of nephrology · 2016Article
- Exploring the role and diversity of mucins in health and disease with special insight into non-communicable diseases.Glycoconjugate journal · 2015Review
- Interstitial calcinosis in renal papillae of genetically engineered mouse models: relation to Randall's plaques.Urolithiasis · 2015Review
- Risk factors: familial aggregation of ESRD in Europeans-is it in the genes?Nature reviews. Nephrology · 2014Article
- Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.Clinical journal of the American Society of Nephrology : CJASN · 2014Article
- Variable presentations of rare genetic renal interstitial diseases.Clinical journal of the American Society of Nephrology : CJASN · 2014Article
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.Nature genetics · 2013Article
- Genetics of hyperuricemia and gout: implications for the present and future.Current rheumatology reports · 2013Review
- Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones.The Journal of biological chemistry · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Autosomal-dominant interstitial kidney disease is characterized by slow progression of chronic kidney disease in patients with bland urinary sediment and no or low-grade proteinuria. There are at least three subtypes. Patients with mutations in the UMOD gene encoding uromodulin suffer from precocious gout in addition to chronic kidney failure. Diagnosis can be achieved through genetic analysis of the UMOD gene. Patients with mutations in the REN gene encoding renin suffer from anemia in childhood, hyperuricemia, mild hyperkalemia, and progressive kidney disease. Genetic analysis of the REN gene can be performed to diagnose affected individuals. There is a third form of inherited interstitial kidney disease for which the cause has not been found. These individuals suffer from chronic kidney disease with no other identified clinical signs. Linkage to chromosome 1 has been identified in a number of these families. Proper diagnosis is valuable not only to the affected individual but also to the entire family and can facilitate treatment, transplantation, and research efforts.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.