8.-POLYCYSTIC KIDNEY DISEASE AND SUDDEN DEATH.
PROF.GARFIA.A
CASE REPORT
Bleeding occurs either into brain substance (brain haemorrhage) or into the subarachnoid space (subarachnoid haemorrhage).The commonest causes of non-traumatic subarachnoid haemorhage (spontaneous haemorrhage) are, in this order:1)rupture of saccular aneurysm (65%) 2) arteriovenous malformation rupture (5%) and 3) extension of intracerebral haematoma usually into ventricles and then into the subarachnoid space ( 5%). About 90% of saccular aneurisms are located in distributions of the internal carotid arteries; the remaining 10% are located on the vertebrobasilar arterial tree.Multiple aneurysms are found in 10-15% of patiens with subarachnoid haemorrhage; these are said to be associated with:
1.- Coarctation of the aorta.
2.- Renal artery stenosis.
3.- Autosomal Dominant Adult Polycystic Kidney Disease ( AD-PCD).
The possible common denominator for the formation of saccular aneurysms is arterial hypertension; however, in AD-PCD there are mutations affecting three genes: PKD1 ( linkage to chromosome 16: 85% of cases); PKD 2 ( 10% of families) and PKD 3. Two of these three genes encode for protein named Policystin I and Policystin II which have an important function in interactions between cells, and between the cells and the extracellular matrix. Abnormal proteins encoded in AD-PCD can play an important role in the origen of saccular aneurysms and in the formation of renal cysts.
In this report it is presented a case of sudden death due to a fatal subarachnoid haemorrage.
The autopsy demonstrates the existence of a AD-PCD and multiple saccular aneurysms in the vertebro-basilar arterial tree -from one of these originated the fatal haemorrhage- and also a Hipertensive Cardiomyopathy (Heart:770g, with biventricular hypertrophy) unknown for the woman and for the family.
The autopsy demonstrates the existence of a AD-PCD and multiple saccular aneurysms in the vertebro-basilar arterial tree -from one of these originated the fatal haemorrhage- and also a Hipertensive Cardiomyopathy (Heart:770g, with biventricular hypertrophy) unknown for the woman and for the family.
FIG.1.- Gross external appearance of the kidneys showing numerous superficial outstanding cysts on the kidneys surface. Prof.Garfia.A
FIG.2.-Hemisection of one of the two kidneys shows the different size of the cysts and the colloid content inside some of them ( yellow color as fat aspect).Prof.Garfia.A
FIG. 3 Inside some cysts exists papillar grows (or inversion of the tubular pattern: connective tissue inside, tubular epithelium outside.Arrows.).Prof.Garfia.A
FIG.4.-Renal cysts occupied by proteinaceos fluid showing striking similarities with thyroids colloid. Note the variability of the cysts size and the flattened epithelium lined it. Prof.Garfia.A
FIG.5.-.-Gross external appearance of heart which shows global hypertrophy (weight:770g).
Prof. Garfia.A
FIG.6.-Note the biventricular hypertrophy with severe concentric LV hypertrophy. Prof.Garfia.A
