An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China

BMC Nephrology

Table 1 JSPN diagnostic criteria^a [10] and criteria described in 1988^b [11]

	Diagnostic features of Alport syndrome
I. Primary feature:	I-1. Persistent hematuria
II. Secondary features:	II-1. Mutations in type IV collagen genes
	II-2. Type IV collagen abnormal expression
	II-3. Glomerular basement membrane (GBM) -specific abnormalities
III. Accessory features	III-1. Family history of kidney diseases
	III-2. Bilateral sensorineural deafness
	III-3. Ocular abnormalities
	III-4. Diffuse leiomyomatosis

^a1. Diagnostic criteria: In addition to the primary feature, patients should satisfy one or more secondary features or satisfy two or more of the accessory features. 2. If patients only have the primary feature and a family member diagnosed with Alport syndrome, the case is set as a “suspected case”. 3. If patients have any one feature of type IV collagen (II-1 or II-2) among the secondary features, the case is set as “asymptomatic carriers”. 4. Features caused by other diseases should be excluded, for example, a family history of kidney failure due to diabetes
^bDiagnostic criteria: If the proband and other family members between them meet at least three of the following:
1. Positive FH of macro/microscopic hematuria or chronic renal failure
2. Electron microscopic evidence of AS on renal biopsy
3. Characteristic ophthalmic signs (anterior lenticonus and macular flecks)
4. High-tone sensorineural deafness

ISSN: 1471-2369