Hereditary Glomerulopathies
• Alport syndrome ..........................................................
Alport Syndrome is an autosomal dominant inherited disease with
variable penetrance, sometimes with X-linkage. Clinically, the patients
show combination of renal disease, nerve deafness ocular defects (anterior
Lenticonus, cataract, macular lesions) and platelet defect
(macrothrombocytopathic thrombocytopenia).The basic defect is in the type IV collagen which is normally
present in the GBM, lens and cochlea.• Fabry's disease ...........................................................
(Angiokeratoma Corporis Diffusum Universale)Fabry's disease results from the deficiency of the enzyme a-
galactosidase. This, in turn, results in an accumulation in all tissues of
glycosphingo-lipids, cerebroside dihexoside and cerebroside trihexoside.
The disease is inherited as X-linked, the homozygous males are severely
affected while the heterozygous females are asymptomatic.Clinical Features:
1- Skin lesions in the form of angiokeratomas which are red papules in
the mouth, lower abdomen, buttocks and pubic region.
2- Neurologic manifestations in the form of periodic episodes of severe
pain due to involvement of dorsal root ganglia.
3- Cardiac manifestations as hypotension and ischaemic heart disease.
4- Renal manifestations include, haematuria, proteinuria and progressive
uraemia.