Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis

Table 1 Demographic data, clinical manifestation, and diagnostic parameters in Alport syndrome patient groups and subgroups ^a

Variable	Initially misdiagnosed group				Initially correctly diagnosed group
Variable	Total	mXLAS	fXLAS	ARAS	Total	mXLAS	fXLAS	ARAS
Case number	52	17	23	12	52	17	23	12
Sex (male/female)	22/30	-	-	5/7	23/29	-	-	6/6
Age (years)
At presentation	21.3 ± 12.8	20.1 ± 12.0	24.2 ± 14.0	17.3 ± 10.9	18.9 ± 12.3	14.6 ± 12.4	18.6 ± 11.4	25.3 ± 11.9
At misdiagnosis	23.4 ± 12.5	20.2 ± 11.0	27.7 ± 13.6	19.7 ± 10.5
At final diagnosis	27.6 ± 12.6*	24.9 ± 12.0	31.6 ± 13.5*	24.0 ± 10.2	22.0 ± 11.2	19.4 ± 10.3	21.4 ± 11.8	26.8 ± 10.5
Clinical manifestation
Hematuria alone	5	0	5	0	7	0	7	0
With proteinuria (>0.4 g/day)	17	4	6	7	18	4	10	4
With hypoalbuminemia (<35 g/L)	17	6	8	3	18	9	4	5
With CKD 3+ (eGFR <60 mL/min)	12	7	4	1	9	4	2	3
Specific diagnostic criteria
Positive family history (proband)	39	13	18	8	37	11	19	7
Renal/skin collagen	30*^b	14	11*	5*	43	16	17	10
Electron microscopic changes	30**^c	10	9**	11	45	12	22	11
High tone deafness	10*	6*	3	1*	24	13	4	7
Ocular defect	11	3	5	3	6	1	1	4
Non-specific diagnostic clues
Glomerular sclerosis	24	9	9	6	19	8	6	5
Interstitial foam cell	30	11	9	10	31	13	10	8
Thickness of Bowman capsule	45	17	17	11	46	16	18	12
Immunofluorescence paucity	38	14	15	9	43	16	16	11
Progressive proteinuria	37	15	11	11	35	15	10	10
Progressive hypoalbuminemia	28	12	9	7	18	10	2	6

^amXLAS, male X-linked Alport syndrome; fXLAS, female X-linked Alport syndrome; ARAS, autosomal recessive Alport syndrome.
^b Chi-squared test, p < 0.05.
^c Chi-squared test, p < 0.01.

ISSN: 1750-1172