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Renal tubular epithelial necrosis

MedGen UID:
7213
Concept ID:
C0022672
Disease or Syndrome
Synonyms: Acute Kidney Tubular Necrosis; Kidney Tubular Necrosis, Acute; Lower Nephron Nephroses; Lower Nephron Nephrosis; Nephron Nephroses, Lower; Nephron Nephrosis, Lower; Nephroses, Lower Nephron; Nephrosis, Lower Nephron
SNOMED CT: Acute tubule necrosis (35455006); Acute tubular necrosis (35455006); Tubulorrhexis (35455006); Acute renal tubular necrosis (35455006)
 
HPO: HP:0008682
Monarch Initiative: MONDO:0006637

Definition

Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal tubular epithelial necrosis

Conditions with this feature

Dalmatian hypouricemia
MedGen UID:
141632
Concept ID:
C0473219
Disease or Syndrome
Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008). Genetic Heterogeneity of Renal Hypouricemia See also RHUC2 (612076), which is caused by mutation in the SLC2A9 gene (606142).
Cataract-nephropathy-encephalopathy syndrome
MedGen UID:
167082
Concept ID:
C0795914
Disease or Syndrome
A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.

Professional guidelines

PubMed

Flamm SL, Wong F, Ahn J, Kamath PS
Clin Gastroenterol Hepatol 2022 Dec;20(12):2707-2716. Epub 2022 Sep 6 doi: 10.1016/j.cgh.2022.08.033. PMID: 36075500
Hasan I, Rashid T, Chirila RM, Ghali P, Wadei HM
Rom J Intern Med 2021 Sep 1;59(3):227-261. Epub 2021 Aug 26 doi: 10.2478/rjim-2021-0006. PMID: 33544554
Cavanaugh C, Perazella MA
Am J Kidney Dis 2019 Feb;73(2):258-272. Epub 2018 Sep 21 doi: 10.1053/j.ajkd.2018.07.012. PMID: 30249419

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