Publications by authors named "A Zanen"

Hereditary forms of renal phosphate wasting have been studied thoroughly in the past years. X-linked Hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and autosomal recessive hypophosphatemic rickets (ARHR) are known genetic disorders in which a disturbance of phosphatonins is a causative factor in the pathogenesis. We describe a comparable but yet undescribed disorder in a family in which a 53 year old man presented with a spontaneous fracture after suffering for years with severe fatigue and musculoskeletal pains.

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Refractive surgery modifies anatomic properties of the eye, in order to improve vision without the recourse to optical devices. It includes corneal surgery (radial keratotomy, excimer laser keratectomy), intraocular surgery (artificial lens implantation) and scleral surgery. The level of satisfaction of the patients who have benefit from this surgery is usually high, but is related to the selection of the subjects, which depends on the motivation and also on the default to be corrected.

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The main clinical activities developed during the first 25 year of the department are described. Topics of fundamental and also clinical research are briefly reviewed.

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In a 33-year-old woman with a recent flaccid paralysis of the arms and legs, laboratory tests demonstrated a severe hypokalemia with hyperchloremic metabolic acidosis and abnormally acidified urine. The urinary anion gap was positive in the presence of acidosis, thus establishing the diagnosis of distal renal tubular acidosis. The patient made a full recovery after potassium and alkali replacement.

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The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one boy were affected with this rare syndrome. The parents were first cousins once removed and unaffected.

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