TABLE 1.

Causes of autosomal dominant tubulointerstitial kidney disease (ADTKD)

Clinical condition	Gene(s) associated	Renal manifestations	Extra‐renal manifestations	Diagnostic considerations in addition to family history of kidney disease
ADTKD‐UMOD	UMOD	Hypouricosuric hyperuricemia, CKD	Gout may occur in adolescence	Gout and CKD
ADTKD‐MUC1	MUC1	CKD	None	Specialized genetic testing. Pathogenic variants not identified by gene panels or whole exome sequencing
ADTKD‐REN	REN	Hyperkalemia, acidosis, hypouricosuric hyperuricemia, CKD	Gout, anemia, mild hypotension	Patients are prone to AKI during viral illnesses
Alagille syndrome	JAG1 or NOTCH2	Vesico‐ureteral reflux, CKD	Cardiac abnormalities, butterfly‐shaped thoracic vertebrae, and a prominent forehead	Deep‐set eyes, broad forehead as well as other extra‐renal manifestations.
Townes‐brocks syndrome	SALL1	Solitary kidney, dysplastic kidneys, vesico‐ureteral reflux, CKD	Imperforate anus, dysplastic ears, thumb malformations	Findings of hand and ear abnormalities, imperforate anus
HDR syndrome	GATA3	CKD	H(hypoparathyroidism), D(deafness) R(renal)	Consider this diagnosis in patients with hypocalcemia and deafness
ADTKD‐HNF1β	HNF1β	Vesico‐ureteral reflux, solitary kidney, CKD	MAGIC LUCID Hypomagnesemia, autosomal dominant, gynecologic abnormalities such as a bicornuate uterus, incomplete penetrance, cystic kidneys and other kidney malformations, liver test abnormalities, hyperuricemia and gout, CKD, intellectual disability in patients with a 17q12 deletion, and maturity onset diabetes of youth	Targeted questioning for family history of associated conditions in patients with kidney cysts
Less severe variants of ADPKD	IFT140, DNAJB11	CKD, may or may not have renal cysts, interstitial kidney fibrosis	May have liver cysts	Consider for families with ADTKD presentation but also history of small renal cysts or polycystic kidneys