A case of McLeod syndrome with chronic renal failure.
A 50-year-old man with the rare McLeod syndrome, associated with glomerular lesion to the end stage of chronic renal failure and death, is reported. McLeod syndrome is an X-linked recessive disorder on the basis of abnormal expression of the Kell blood group antigens and absence of erythrocyte surface Kx antigen. Most often the clinical and pathological findings are retinitis pigmentosa to blindness, progressive chronic neuropathy, cortical atrophy, dilated cardiomyopathy, and glomerular lesion with chronic renal failure. Among the laboratory parameters the most important are very low level of cholesterol and triglycerides, then various numbers of acanthocytes in peripheral blood smears and sometimes in urine (as in our case).
Jeren-Strujić
B
B
Clinical Hospital Dubrava, Department of Internal Medicine, Zagreb, Croatia.
Jeren
T
T
Thaller
N
N
Zivković
Z
Z
Raos
V
V
D000743:Anemia, Hemolytic / Q000235:genetics*; D001055:Apolipoproteins B / Q000172:deficiency* / Q000235:genetics; D001201:Ascites / Q000209:etiology; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D017707:Erythrocyte Transfusion / Q000009:adverse effects; D017809:Fatal Outcome; D005808:Genes, Recessive; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007626:Kell Blood-Group System / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000235:genetics*; D011654:Pulmonary Edema / Q000209:etiology; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012678:Sensation Disorders / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics
D001055:Apolipoproteins B; D007626:Kell Blood-Group System