ABSTRACT
A 39-year old man had periodic paralysis due to hypokalaemia. Investigations led to the diagnosis of distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO). Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell. The finding of diffuse osteosclerosis led to the suspicion of coexisting fluorosis.
Subject(s)
Acidosis, Renal Tubular/chemically induced , Elliptocytosis, Hereditary/diagnosis , Fluoride Poisoning/complications , Osteosclerosis/diagnosis , Quadriplegia/etiology , Acidosis, Renal Tubular/diagnosis , Acidosis, Renal Tubular/drug therapy , Administration, Oral , Adult , Bone Density Conservation Agents/therapeutic use , Calcium, Dietary/therapeutic use , Elliptocytosis, Hereditary/complications , Elliptocytosis, Hereditary/pathology , Fluoride Poisoning/diagnosis , Fluoride Poisoning/pathology , Fluorosis, Dental/complications , Fluorosis, Dental/drug therapy , Humans , Male , Osteosclerosis/complications , Potassium Chloride/therapeutic use , Quadriplegia/pathology , Sodium Bicarbonate/therapeutic useABSTRACT
Zygomycosis is a rare fungal infection usually found in immunocompromised patients. It is a rapidly progressing infection with a high mortality rate. Our report describes an unusual case of rhinofacial zygomycosis due to Cunninghamella sp. in an immunocompetent patient, who presented with a slowly progressive swelling of the left cheek. An interrupted course of amphotericin B treatment caused regression of the lesion. Drug therapy was abandoned due to impairment of renal function. The patient was clinically and radiologically disease free for 2 years following cessation of therapy.