21.- POLYCYSTIC KIDNEY AND SUDDEN UNEXPECTED DEATH. PROF.GARFIA.A

21.-SUDDEN UNEXPECTED DEATH DUE TO BRAIN HAEMORRHAGE IN A LEGAL CASE:HISTOPATHOLOGICAL FINDINGS.
Prof.Garfia.A.

21.-POLYCYSTIC KIDNEY DISEASE AND SUDDEN UNEXPECTED 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 Unexpected 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.

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FIG.1.- Gross external appearance of the kidneys showing numerous superficial outstanding cysts on the kidneys surface. Prof.Garfia.A

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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). Prof. Garfia.A

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PROF. GARFIA.Fig.3.-Renal cysts occupied by proteinaceos fluid showing striking similarities with thyroid (colloid reabsorption).Note the variability of the cysts size and the flattened epithelium lined it. Prof.Garfia.A

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Fig. 4.- Inside some cysts exists papillar grows (or inversion of the tubular pattern: connective tissue inside, tubular epithelium outside. Arrows.).Prof.Garfia.

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Fig. 5.- Gross external appearance of heart which shows global hypertrophy (weight:770 g).PROF.GARFIA.A

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Fig.6.- Note the biventricular hypertrophy with severe concentric LV hypertrophy. PROF.GARFIA.A