Autosomal dominant tubulointerstitial nephropathy (ADTN) [5 genes]

The KDIGO (Kidney Disease Improving Global Outcomes) clinical guidelines unified the term ADTKD (Autosomal dominant tubulointerstitial kidney disease) to describe one of the most common causes of hereditary kidney diseases caused by monoallelic genetic defects in the genes MUC1, UMOD, REN, HNF1B and SEC61A1. The suspicion of ADTKD is established when there is a progressive loss of kidney function between the ages of 20 and 80, inactive urinary sediment, absent or mild proteinuria, non-severe hypertension in states initial stages of the disease, and tubulointerstitial nephritis without external cause (PMID: 25738250). However, each ADTKD subtype presents specific clinical and laboratory characteristics.

This panel allows the analysis of genetic variants in the coding and intronic regions at +/- 20 bp in the genes of interest, as well as the analysis of copy number variants (CNVs). In particular, the complete analysis of the MUC1 coding region, including the VNTR region, is included.

Unknown.
It is estimated that between 5% and 10% of genetically based CKD cases are caused by ADTKD.

Identifying a genetic variant causing ADTKD allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

In the case of suspected ADTKD or patients with unrelated CKD, a genetic study should be requested. Among the most common clinical characteristics, the following stand out, some of them specific to each ADTKD subtype:

  • Unknown chronic kidney disease (UMOD, MUC1, REN, HNF1B, SEC61A1)
  • Tubular atrophy (UMOD, MUC1, REN, HNF1B, SEC61A1)
  • Interstitial fibrosis (UMOD, MUC1, REN, HNF1B, SEC61A1)
  • Lamination and thickening of the tubular basement membrane (UMOD, MUC1, REN, HNF1B, SEC61A1)
  • Corticomedullary or medullary cysts (UMOD, MUC1, HNF1B, SEC61A1)
  • Anemia (REN)
  • Hyperuricemia (UMOD, REN, SEC61A1)
  • Hypomagnesemia, hypokalemia (REN, HNF1B)

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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.