title: Renal tubular dysfunction in methylmalonic acidaemia.
abstract: Renal tubular function was assessed in seven patients with methylmalonic acidaemia not responsive to vitamin B12. Five patients failed to concentrate their urine normally and in these patients the glomerular filtration rate was also reduced. Fractional excretion of sodium was increased in four patients, fractional excretion of potassium in one patient and in three there was a decreased tubular reabsorption of phosphate. Although possibly representing primary tubular damage these findings were thought to be consistent with adaptive changes secondary to the reduced glomerular filtration rate. Two patients had evidence of a defect of urinary acidification and several had a degree of hyporeninaemic hypoaldosteronism suggesting type 4 renal tubular acidosis. In one patient with a mild variant no renal disease was detected. Decreased renal function and tubular abnormalities were common in patients with methylmalonic acidaemia. It is likely that they are linked and essentially secondary to the tubulo-interstitial nephritis that is histologically demonstrable on renal biopsy. The failure of urinary concentrating ability and the disturbed urine acidification will contribute to the metabolic derangement during episodes of decompensation.
authors.affiliation: Department of Child Health, Hospital for Sick Children, London, UK.
authors.forename: C T
authors.initials: CT
authors.lastname: D'Angio
authors.forename: M J
authors.initials: MJ
authors.lastname: Dillon
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D005919:Glomerular Filtration Rate / Q000502:physiology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007671:Kidney Concentrating Ability / Q000502:physiology; D007684:Kidney Tubules / Q000503:physiopathology*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy / Q000503:physiopathology*; D008764:Methylmalonic Acid / Q000097:blood / Q000652:urine*; D011188:Potassium / Q000652:urine; D012964:Sodium / Q000652:urine; D014556:Urine / Q000737:chemistry; D014805:Vitamin B 12 / Q000627:therapeutic use
chemical_list: D008764:Methylmalonic Acid; D012964:Sodium; D014805:Vitamin B 12; D011188:Potassium