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

Table 3 Procedures for the correction of pathologic misdiagnosis in previously diagnosed group

Subtypes	Primary procedures	N	Secondary procedures	N
fXLAS	Correction after proband diagnosed	8	plus skin biopsy	3
			plus recheck of EM	5
			later found FH	6
			rule out confounding factors	2
			later developed ear/eye damage	1
	Recheck of EM/COL in renal tissue during follow-up	10	recheck EM in renal tissue	8
			recheck kidney collagen stain	2
	Renal re-biopsy with EM/COL exams	3	rule out confounding factors	2
			plus skin biopsy	1
	Skin biopsy alone	2
mXLAS	Correction after proband diagnosed	1	plus skin biopsy	1
	Renal re-biopsy with EM/COL	13	plus skin biopsy	12
			later found FH	5
	Skin biopsy alone	3	later developed ear/eye damage	2
			plus recheck of EM/COL	3
ARAS	Renal re-biopsy with EM/COL exams	8	later found FH	6
			rule out confounding factors	4
	Recheck EM/COL exams in renal tissue	3	later found FH	1
	Proband	1	later found FH	1

N, patients number; mXLAS, male patients with X-linked Alport syndrome; fXLAS, female patients with X-linked Alport syndrome; ARAS, autosomal recessive Alport syndrome FH, positive family history; EM, electronic microscopy; COL,collagen-IV immunofluorescence.

ISSN: 1750-1172