Table 2.

Clinical presentation of ADTKD subtypes

Characteristics	UMOD	MUC1	REN (het.)	HNF1B	DNAJB11 (het.)	SEC61A1
Estimated prevalence/reported cases	USA: 3% of monogenic ESKD [4] UK: 9/1 000 000 population [3] UK: 2% of ESKD [3]	Ireland: ∼4/1 000 000 [28] US: ∼0.7/1 000 000 [7]	Around 30 families described globally [11]	∼19% in selected patient cohorts, ranging from 5% to 31% and highest in children with CAKUT [29]	27 families reported Prevalence was calculated at 0.85/10 000 individuals [12]	Prevalence unknown, probably ultra-rare Three families with kidney disease described globally
ESKD onset and renal survival	Median (IQR) age at ESKD 46 years (39–57 years) [9] Median renal survival: 54 years, 95% CI 51.5–56.5 years [9]	Median (IQR) age at ESKD (IQR): 36 years (30–46 years) [9] Median renal survival: median: 46 years, 95% CI 39.3–52.7 years [9]	Median age at ESKD [11]: Signal: 57 years Prosegment: 62 years Mature: 68 years	Median (IQR) age at ESKD: 50 years (30–56.5 years) [30]	Median renal survival: 75 years, 95% CI 72.5–77.5 years [12]	Unknown
ESKD onset: age distribution	18–87 years [8]	16–>80 years [10]	15 years to >80 years	Highly variable, ESKD can occur before age 2 years [31]	55–89 years	Infantile onset of CKD, one patient with ESKD ∼70 years and one patient with CKD G4 at 53 years
Extrarenal clinical features	Prevalent (∼80%) and early-onset gout (median: 27 years) [9]	Gout less prevalent (∼25%) and later onset (median: 45 years) [9]	Mild hypotension Early-onset gout (first attack ∼30 years)	MODY5 Pancreatic hypoplasia (+exocrine dysfunction) Gout Genital tract malformations Neurological features in 17q12 deletion syndrome	Gout uncommon Vascular phenotypes reported in four families including intracranial aneurysms, spontaneous dissection of the carotid, aneurysms of the ascending thoracic aorta	Heterogeneous presentation Early-onset gout reported in one family Pre- and post-natal growth restriction Bifid uvula Cleft palate and velopharyngeal insufficiency Pre-axial polydactyly Recurrent infections and abscess formation Cognitive impairment
Laboratory features	Hyperuricaemia with low FEuric acid Low urine UMOD levels [9]	–	Childhood anaemia (signal and pro-segment) Mild hyper-K+ Metabolic acidosis Hyperuricaemia with low FEuric acid Low/low-normal plasma renin [11,32]	Abnormal liver enzymes Hypo Mg2+ Hypo K+ Hyperuricaemia	–	Leukopaenia and neutropaenia Congenital anaemia (Epo-responsive)
Kidney imaging features	Small-to-normal size kidneys Cysts uncommon (∼25%) [33]	Small-to-normal size kidneys [10] Cysts in ∼50% of cases, not medullary [2,10]	Small-to-normal size kidneys [32]	Wide spectrum of renal appearances including pre-natal hyperechogenic kidneys, cysts, renal hypo/dysplasia, horseshoe kidney	Mostly normal-sized kidneys Multiple bilateral small kidney cysts in majority of cases Liver cysts (∼50%) [12]	small dysplastic kidneys (± cysts) [34]

FE_{uric acid}, fractional excretion of uric acid.