Table 2.

Characteristics of registry cohort

	CAKUT	Ciliopathies	Glomerulo-pathies	Tubulopathies	Metabolic nephropathies	Thrombotic micro-angiopathies	Rare causes of hypertension	All patients
No. of diagnoses (Orphacodes)	48	21	60	35	20	9	6	203
No. of patients (N (%))	1781 (24.1%)	1406 (19.0%)	2816 (38.1%)	680 (9.2%)	302 (4.1%)	321 (4.3%)	79 (1.1%)	7385 (100%)
Male sex (%)	68.5	47.3	56.5	52.4	57.6	51.1	49.3	57.0
Ethnicity (%)-Caucasian/Arabic/African/East Asian/other	86/8/3/1/2	93/4/1/1/1	90/5/2/2/1	79/9/2/1/9	81/13/1/2/3	90/4/3/0/3	86/9/0/0/5	87/6/2/1/4
Family history of kidney diseases (%)	5.3	46.1	11.4	21.7	16.9	3.4	11.4	16.8
Median (IQR) age at first signs or symptoms (years)	0.0 (0.0–0.2)	11.1 (0.6–28.0)	11.6 (3.8–41.0)	1.7 (0.2–9.2)	0.8 (0.1–2.9)	3.3 (1.3–6.9)	1.2 (0.3–4-4)	14.1(7.4–31.7)
Median (IQR) age at enrolment (years)	8.4 (3.3–13.9)	21.4 (11.4–46.8)	17.8 (10.7–50.9)	12.3 (6.6–18.7)	15.0 (7.8–24.5)	8.9 (4.7–14.9)	11.0 (6.4–14.9)	4.8 (0.3–18.5)
Genetic testing performed (% of all cases)	11.3	38	17.3	62.1	61.9	22.1	31.6	26.1
Genetic testing performed (% of hereditary disease cases)	21.2	38	60.7	65.2	61.9	72.3	58.5	46.3
Genetically confirmed diagnosis (% of all cases)	5.3	31.9	12.1	54.7	57.9	15.9	29.1	20.4
Genetically confirmed diagnosis (% of hereditary disease cases)	11.2	31.9	52.1	57.6	57.9	56.6	56.1	39.7
Genetically confirmed diagnosis (% of hereditary disease cases who underwent genetic screening)	52.0	84.1	85.5	88.2	93.6	78.3	95.8	85.8
Histopathologically confirmed diagnosis (%)	0.8	1.1	57.1	2.2	6.6	14.0	0	23.2
Disease stage (%) -CKD 1/2/3/4/5/Dialysis/Transplantation	36/23/13/5/2/3/17	36/21/15/7/7/4/10	52/19/11/4/1/3/9	68/21/8/1/1/1/1	41/22/14/5/1/5/13	43/22/11/5/2/4/13	80/14/4/0/0/0/3	47/20/12/5/2/3/11

Data are median (interquartile range) or N (%) as applicable