Xanthogranulomatous pyelonephritis is a clinico-pathological entity that is gaining awareness amongst urologists worldwide. It is an unusual chronic inflammatory lesion involving the kidney that destroys renal parenchyma and may mimic renal carcinoma. It is usually seen in middle-aged women and is associated with urinary tract infections and urinary calculi. Most reports and reviews of this condition come from the West; this study reviews the incidence and presentation of the condition in a Malaysian population.
A total of 86 unrelated Malaysian patients with familial hypercholesterolaemia (FH) were studied for mutations in their low-density lipoprotein receptor (LDL-R) gene. Amongst them, 23 had a LDL-R gene mutation, while none having an Apolipoprotein B-3500 (Apo B-3500) mutation. Patients with the LDL-R gene defect appeared to have a higher level of low-density lipoprotein cholesterol (LDL-C), an increased incidence of xanthomas and coronary heart disease (CHD), but no relationships were found between the type of LDL-R gene mutations and their lipid levels or clinical signs of CHD. In contrast to Western data, our findings seemed to indicate a predominance of mutations in the ligand binding domain and an absence of Apo B-3500 gene mutation. The latter finding may offer a genetic basis as to why Asian patients with familial hypercholesterolaemia have lower LDL-C levels and less premature CHD than their Western counterparts.