Table 1.

Causes of autosomal dominant tubulointerstitial kidney disease

Clinical condition	Mutated genes	Kidney manifestations	Extra-kidney 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. Mutations 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
ADTKD-HNF1β	HNF1β	Fetal hyperechogenic kidneys, multicystic and dysplastic kidneys, kidney agenesis, hypomagnesemia, hyperuricemia	MAGIC LUCID (see Table 2)	Targeted questioning for family history of associated conditions in patients with kidney cysts
ADTKD-SEC61A1	SEC61A1	CKD	Neutropenia, intrauterine growth retardation	Extremely rare
Alagille syndrome	JAG1 or NOTCH2	Vesico-ureteral reflux, CKD	Deep-set eyes, broad forehead, triangular chin, butterfly vertebrae, stenosis of pulmonary arteries, cholestasis	Deep-set eyes, broad forehead and triangular chin as well as other extra-kidney manifestations.
Townes-Brocks syndrome	SALL1	Solitary kidney, dysplastic kidneys, vesico-ureteral reflux, CKD	External ear malformations, syndactyly and triphalangeal thumb, imperforate anus	Findings of hand and ear abnormalities, imperforate anus
HDR syndrome	GATA3	CKD	H(hypoparathyroidism), D(deafness)	Consider this diagnosis in patients with hypocalcemia and deafness