Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.2.1.17 (lysozyme)
 21,489 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report herein data on 6 male patients with progressive tubulopathy. These patients belonged to two families: the propositus, his father, a paternal first cousin, two paternal uncles, and a maternal uncle. A 7-year-old proband had mild proteinuria (1 g/day), consisting of beta 2-microglobulin, alpha 1-microglobulin and lysozyme, and aminoaciduria. Glycosuria and acidosis were absent. A 38-year-old father had mild proteinuria (2 g/day), including low-molecular-weight protein. Hypokalemia, hypophosphatemia, glucosuria, phosphaturia, aminoaciduria, and reduced urinary concentrating ability were also present. The other 4 affected family members also had low-molecular-weight proteinuria, detected by screening for beta 2-microglobulin. In addition, there were several abnormalities; aminoaciduria in all 6, phosphaturia in 4 of 6, hypercalciuria in all 6 and glycosuria in 2 of 6 patients. Tubular dysfunction was more severe in the older subjects, hence, the disease seems to progress with age. Familial low-molecular-weight proteinuria is apparently a progressive disease linked to a X-linked or to an autosomal dominant inheritance.
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PMID:Familial progressive renal tubulopathy. 158 58

Proximal renal tubular function was studied in 11 patients with severe burn injury. Creatinine clearance was normal or increased in ten patients. Fractional excretion of sodium was less than 1% in ten. Fractional excretion of uric acid and amylase were increased in all but four and two cases, respectively, while absolute clearances of lysozyme and beta 2-microglobulin were increased in all but one patient. Renal threshold phosphate concentration was reduced in four patients. Twenty-four-hour urine glucose excretion exceeded 1 g in five patients, aminoaciduria was noted in eight, and proteinuria, predominantly globulinuria, was present consistently. Metabolic acidosis was seen in one patient, and transient hypokalemia occurred in two. Abnormalities of proximal tubular function were more marked in the five patients with the greatest extent of third-degree burns who died. The cause of proximal tubular dysfunction is not clear and may be related to an adaptive response to severe injury.
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PMID:Proximal renal tubular dysfunction in severe burns. 620 26