Autosomal dominant tubulointerstitial nephropathy (ADTN) [5 genes]

The presence of a positive family history of kidney disease with an autosomal dominant inheritance pattern, together with compatible clinical and histological manifestations and with the absence of evidence for other renal disease, is a cause for suspicion of autosomal dominant tubulointerstitial kidney disease (ADTKD). It can also be considered in cases without a positive family history but with typical findings, since it can also be due to de novo pathogenic variants. Clinically, it is characterized by a progressive decline in kidney function, resulting in terminal kidney failure between ages 20 and 80, with inactive urinary sediment, mild or absent proteinuria, and normal or decreased kidney size on echography with occasional renal cysts.
There are five types of ADTKD depending on the affected gene: MUC1, UMOD, REN, HNF1B, SEC61A1. ADTKD-HNF1B can be associated with extrarenal manifestations, such as MODY5, genital abnormalities, and pancreatic atrophy.

  • Chronic kidney disease, kidney failure
  • Tubular atrophy
  • Interstitial fibrosis
  • Laminated and thickened tubular basement membrane
  • Medullary or corticomedullary cysts
  • Polyuria, polydipsia
  • Anemia

Prevalence: Unknown

  • Dialysis
  • Kidney transplant
  • Genetic counseling

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Autosomal dominant tubulointerstitial nephropathy (ADTN)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110424

Autosomal dominant tubulointerstitial nephropathy (ADTN): View panel
  • HNF1B
  • MUC1
  • REN
  • SEC61A1
  • UMOD

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Ayasreh Fierro N et al. Revisión de la nefropatía tubulointersticial autosómica dominante. n e f r o l o g i a 2 0 1 7;3 7(3):235–243 http://dx.doi.org/10.1016/j.nefro.2016.10.024.
  2. Eckardt KU et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management – A KDIGO consensus report. Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.