Table 2. Clinical manifestations of the... | American Society of Hematology

Table 2.

Clinical manifestations of the various Alport-like syndromes

Hyper-cholesterol	Impaired liver function	Eye abnormalities	Deafness	Nephropathy	Inclusion bodies	Macro-thrombo	Mutated gene/loci	Inheritance	Syndrome
−	−	+	+	+	−	−	COL4A5	x-Linked	Alport
							COL4A6
−	−	+	+	+	−	−	COL4A3	Autosomal	Alport
							COL4A4	recessive
−	−	+	+	+	−	−	COL4A3(?)	Autosomal	Alport
							COL4A4(?)	dominant
−	−	−	−	−	+^*	+	Chr.22 q12-	Autosomal	May-
							13	dominant	Hegglin
−	−	+	+	+	−	+	Chr.22 q11-	Autosomal	Epstein
							13	dominant
+	+	+	+	+	+^*	+	Chr.22 q11-	Autosomal	Fechtner^†
							13	dominant
−	−	−	−	−	+^*	+	Chr.22 q11-	Autosomal	Sebastian
							13	dominant

Hyper-cholesterol	Impaired liver function	Eye abnormalities	Deafness	Nephropathy	Inclusion bodies	Macro-thrombo	Mutated gene/loci	Inheritance	Syndrome
−	−	+	+	+	−	−	COL4A5	x-Linked	Alport
							COL4A6
−	−	+	+	+	−	−	COL4A3	Autosomal	Alport
							COL4A4	recessive
−	−	+	+	+	−	−	COL4A3(?)	Autosomal	Alport
							COL4A4(?)	dominant
−	−	−	−	−	+^*	+	Chr.22 q12-	Autosomal	May-
							13	dominant	Hegglin
−	−	+	+	+	−	+	Chr.22 q11-	Autosomal	Epstein
							13	dominant
+	+	+	+	+	+^*	+	Chr.22 q11-	Autosomal	Fechtner^†
							13	dominant
−	−	−	−	−	+^*	+	Chr.22 q11-	Autosomal	Sebastian
							13	dominant

The ultrastructure of the inclusion bodies in Fechtner syndrome resembles those in Sebastian syndrome and is different from those in the May-Hegglin anomaly.

Macrothrombo = macrothrombocytopenia.

†

The 3 families with Fechtner syndrome differ slightly from each other, as described in the text.

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