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: A Furuse, Y Futagoishi, S Karashima, S Hattori, I Matsuda
• Journal: Clinical nephrology (Clin Nephrol) Vol. 37 Issue 4 Pg. 192-7 (Apr 1992) ISSN: 0301-0430 [Print] Germany
• PMID: 1582058 (Publication Type: Case Reports, Journal Article)

Chemical References

• beta 2-Microglobulin

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Female
• Genes, Dominant (genetics)
• Genetic Linkage (genetics)
• Humans
• Kidney Diseases (genetics, pathology)
• Kidney Tubules (pathology)
• Male
• Middle Aged
• Pedigree
• Proteinuria (genetics)
• X Chromosome
• beta 2-Microglobulin (urine)