[Fechtner syndrome: report of two families and review of the literature on the related disorders].
Two families who had been reported as having May-Hegglin anomaly were diagnosed as having Fechtner syndrome based on complication of renal disease, deafness and characteristic leukocyte inclusions. By Wright-Giemsa staining, the inclusions of neutrophils were smaller and stained less clearly than those seen in May-Hegglin anomaly. Ultrastructurally, the inclusions consisted of organelle-poor cytoplasm, containing small particles, which were probably ribosomes. Some inclusions contained only a few filaments or small remnants of rough endoplasmic reticulum (RER). The latter resembled the findings observed in Fechtner syndrome. They lacked the parallel arrays of filaments characteristic of May-Hegglin anomaly and the parallel strands of RER seen in toxic Döhle bodies. Renal disorders ranged from microscopic hematuria to renal failure requiring dialysis in one family and persistent proteinuria in the other family. Deafness was sensorineural type or combined type due to otitis media. Except for the fact that they lacked congenital cataracta, the findings in these two families were consistent with those in Fechtner syndrome.
Takai
K
K
Sanada
M
M
Hattori
A
A
Koike
T
T
Shibata
A
A
D000328:Adult; D001792:Blood Platelets / Q000473:pathology*; D005260:Female; D006319:Hearing Loss, Sensorineural; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007962:Leukocytes / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000097:blood* / Q000235:genetics; D009504:Neutrophils / Q000473:pathology; D013921:Thrombocytopenia / Q000473:pathology*