7- alport syndrome

a- alport syndrome is an inherited disorder and four forms of this disease are recognised

1- classic AS - inherited as an x linked disorder with HEMATURIA , SENSORINEURAL

DEAFNESS AND CONICAL DEFORMATION OF THE ANTERIOR SURFACE OF THE LENS

also called as LENTICONUS .

2-a subtype of the x linked form associated with DIFFUSE LEIOMYOMATOSIS

3- an autosomal recessive form

4- an autosomal dominant form .

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THE TWO AUTOSOMAL FORMS CAN CAUSE RENAL DISEASE WITHOUT DEAFNESS OR LENTICONUS .

WOMEN ARE GENERALLY UNDERDIAGNOSED AND LESS SEVERELY AFFECTED THAN MALES .

CLASSIC AS - GLOMERULAR BASEMENT MEMBRANE IS UP TO FIVE TIMES THICKER THAN NORMAL AND THE LAMINA DENSA IS DISTORTED AND SPLIT.

THE X LINKED FORM IS GENERALLY ASSOCIATED WITH MUTATIONS IN THE COL4A5 GENE AND THE X LINKED FORM WITH LEIMYOMATOSIS - COL4A5 AND COL4A6.

TYPE IV COLLAGEN MUTATIONS - XLINKED AND AUTOSOMAL RECESSIVE FORMS.

RENAL TRANSPLANTATION IS USUALLY SUCCESFUL