title: Familial progressive renal tubulopathy.
abstract: 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.
authors.affiliation: Department of Pediatrics, National Nishibeppu Hospital, Oita, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Furuse
authors.forename: Y
authors.initials: Y
authors.lastname: Futagoishi
authors.forename: S
authors.initials: S
authors.lastname: Karashima
authors.forename: S
authors.initials: S
authors.lastname: Hattori
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D007684:Kidney Tubules / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011507:Proteinuria / Q000235:genetics*; D014960:X Chromosome; D001613:beta 2-Microglobulin / Q000652:urine*
chemical_list: D001613:beta 2-Microglobulin