Table 1.

Clinical characteristics of the 7 Alport's families with an established molecular diagnosis

Family code	Individual No. (gender)	Gene	Disease‐ causing variant	State	Inheritence	Phenotype								Kidney Repalcement therapy	Other signs
						Age at oneset (years)	Age of ESRD (date)	Hearing Loss	OcularLesions	GBM Splitting	Hematuria	Hypertension (mmHg)	Proteinuria
1	III 1 (F)	COL4A5	c.443C > T	Het	XD	36	‐	‐	‐	NA	++	145/105	±	‐	NA
	III 2 (M)			Hemi		34	‐	‐	‐	NA	++	140/100	±	‐	NA
2	III 2 (M)	COL4A5	c.1289C > A	Hemi	XD	27	30	‐	‐	NA	NA	NA	++++	HD	IgA, Poor clinical results after hormone therapy
		INF2	c.550G > A	Het	AD
3	III 1 (F)	COL4A5	c.2366_2383del	Het	XD	17	20a	+	‐	NA	NA	150/90	NA	HD	NA
4	III 1 (M)	COL4A5	c.3188G > A	Het	Isolated case	24	‐	‐	‐	+	++	120/80	+++	‐	NA
5	III 2 (M)	COL4A5	c.4473T > A	Hemi	Isolated case	18	‐b	+	‐	NA	+	120/80	++	‐	NA
6	III 2 (M)	COL4A3	c.971G > A	Het	Isolated case	30	‐	+	NA	+	‐	‐	++++	‐	Poor clinical results after hormone therapy
			c.4411_4412del	Het	Isolated case
7	III2(M)	COL4A4	c.3782G > A	Het	AD	34	‐	‐	‐	NA	+++	‐	4.3g/day	‐	ACEI

Abbreviations: AD, Autosomal dominant; ESRD, end‐stage renal disease; GBM, glomerula basement membrane; NA, not available; XD, X‐linked dominant; XR, X‐linked recessive.

^aESRD age of brother

^bScr > 200mmol/l