Diagnosis of autosomal dominant tubulointerstitial kidney disease

ADTKD: autosomal dominant tubulointerstitial kidney disease; CKD: chronic kidney disease.

* The diagnosis of ADTKD should be suspected in any patient who presents with CKD, a family history consistent with autosomal dominant inheritance of CKD (ie, at least a parent and child affected), and a bland urinary sediment with absent or minimal proteinuria. De novo mutations in genes causing ADTKD are rare but can be evaluated as the cause of kidney disease in individuals with CKD and a bland urinary sediment who do not have a family history of CKD or in patients with kidney biopsy findings of tubulointerstitial kidney disease without a primary glomerular cause.

¶ Kidney ultrasound reveals normal size with increased echogenicity early in the disease course, with kidneys becoming smaller as CKD progresses. Occasional cysts may occur, as with other forms of CKD.

Δ MUC1 genetic testing is not included in kidney disease gene panels as such panels are unable to identify >90% of MUC1 mutations.

◊ Genetic testing may be expensive. If the patient is unable to afford commercial genetic testing, testing for UMOD and MUC1 mutations can also be performed free of charge for individuals with ADTKD by The Rare Inherited Disease Team of Wake Forest School of Medicine (contact [email protected]).

§ A clinically approved genetic test for MUC1 is available from the Broad Institute of Harvard Medical School and the Massachusetts Institute of Technology through a collaboration with Wake Forest School of Medicine (contact [email protected]).This test only identifies the cytosine duplication, the most common pathogenic variant in ADTKD-MUC1. There are also centers available in Europe that provide similar MUC1 genetic testing. Refer to UpToDate content on preferred testing methods in ADTKD.