Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis

Table 1

Main findings of the different genetic subtypes of ADTKD.

	UMOD	MUC1	REN	HNF 1β
Clinical findings	Gout; Occasional cortical cysts	Occasional cortical cysts	Hypotension; Anemia	Diabetes mellitus; Pancreatic atrophy; Urogenital anomalies
Age at presentation	adulthood	adulthood	childhood	Early childhood
Laboratory findings	Hyperuricemia	No characteristic findings	Hyperuricemia; Hyperkalemia	Hypomagnesemia; Hypokalemia; Elevated liver enzyme levels
Pathology findings	Tubulointerstitial damage. Secondary FSGS; Intracellular UMOD deposits in Thick Ascending Henle’s limbs	Tubulointerstitial damage. Secondary FSGS; Intracellular accumulation of MUC1 in distal tubules	Tubulointerstitial damage. Secondary FSGS

ADTKD, Adult dominant tubulointerstitial kidney disease; UMOD, uromodulin; MUC1, mucin-1; REN, renin; HNF 1β, Hepatocyte nuclear factor 1β; FSGS, focal and segmental glomerulosclerosis.