title: Renal growth in isolated methylmalonic acidemia.
abstract: OBJECTIVE
  We sought to predict renal growth based on clinical and metabolic parameters in patients with isolated methylmalonic acidemia, a group of disorders associated with chronic kidney disease.
  
  
  METHODS
  Fifty patients with methylmalonic acidemia, followed from 2004 to 2011, were classified by molecular genetics and studied using a combined cross-sectional and longitudinal design that included renal ultrasound examinations, anthropometric measurements, and metabolic phenotyping. Renal length was compared with that of healthy controls and modeled to other clinical parameters using multiple-regression analyses.
  
  
  RESULTS
  Comparisons with age-matched controls showed that renal length in subjects with methylmalonic acidemia was significantly decreased (P < 0.05). Stepwise regression modeling found that combinations of height, serum cystatin C, and serum methymalonic acid concentrations best predicted kidney size. The regression equations used to generate methylmalonic acidemia kidney nomograms were renal length (cm) = 6.79 + 0.22 × age for the controls and 6.80 + 0.09 × age for the methylmalonic acidemia cohort (P < 0.001; constant and slope).
  
  
  CONCLUSIONS
  Renal length, reflective of kidney growth, significantly decreased in patients with methylmalonic acidemia over time as compared with controls and was predictable with select clinical parameters. Cystatin C and serum methylmalonic acid concentrations were highly correlated with smaller kidneys and decreased renal function in this patient population.
authors: Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors: Paul S
authors: PS
authors: Kruszka
authors: Irini
authors: I
authors: Manoli
authors: Jennifer L
authors: JL
authors: Sloan
authors: Jeffrey B
authors: JB
authors: Kopp
authors: Charles P
authors: CP
authors: Venditti
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D055316:Cystatin C / Q000097:blood; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000254:growth & development*; D016014:Linear Models; D008137:Longitudinal Studies; D008764:Methylmalonic Acid / Q000097:blood; D051436:Renal Insufficiency, Chronic / Q000000981:diagnostic imaging* / Q000473:pathology; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D055316:Cystatin C; D008764:Methylmalonic Acid
references: Pediatr Res. 2007 Aug;62(2):225-30
references: 17597648
references: Clin J Am Soc Nephrol. 2011 Jan;6(1):107-13
references: 20884775
references: N Engl J Med. 2012 Jul 5;367(1):20-9
references: 22762315
references: Mol Genet Metab. 2009 Jul;97(3):172-8
references: 19375370
references: Pediatr Nephrol. 2006 Feb;21(2):270-3
references: 16247646
references: Clin Biochem. 2008 May;41(7-8):498-503
references: 18280806
references: Pediatr Nephrol. 1993 Feb;7(1):81-2
references: 8439488
references: N Engl J Med. 1987 Oct 22;317(17):1098
references: 3657876
references: Gene Ther. 2012 Apr;19(4):385-91
references: 21776024
references: Urology. 2011 Aug;78(2):405-10
references: 21459422
references: Pediatr Radiol. 1985;15(1):38-43
references: 3881724
references: J Inherit Metab Dis. 1998 Oct;21(7):729-37
references: 9819702
references: J Paediatr Child Health. 2010 Jun;46(6):310-5
references: 20665930
references: Transplant Proc. 2007 Jul-Aug;39(6):1779-81
references: 17692610
references: Pediatr Nephrol. 1991 May;5(3):323-6
references: 1867988
references: FASEB J. 2009 Apr;23(4):1252-61
references: 19088183
references: Pediatr Nephrol. 2004 Sep;19(9):992-1003
references: 15206038
references: Clinics (Sao Paulo). 2009;64(1):41-4
references: 19142550
references: Australas Radiol. 2007 Dec;51(6):555-9
references: 17958691
references: Clin Biochem. 2007 Mar;40(5-6):383-91
references: 17316593
references: Pediatrics. 1998 May;101(5):875-81
references: 9565418
references: Pediatr Radiol. 1994;24(2):101-6
references: 8078709
references: Eur J Pediatr. 1989 Jan;148(4):344-8
references: 2707280
references: J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):288-98
references: 16763890
references: Acad Emerg Med. 2011 Oct;18(10):1099-104
references: 21996075
references: Arch Dis Child. 1967 Oct;42(225):492-504
references: 6061291
references: Am J Clin Nutr. 2011 Jan;93(1):47-56
references: 21048060
references: AJR Am J Roentgenol. 1991 May;156(5):1029-32
references: 2017927
references: J Pediatr. 1994 Dec;125(6 Pt 1):903-8
references: 7996362
references: J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9
references: 16763906
references: Arch Dis Child. 1998 Jun;78(6):508-12
references: 9713004
references: N Engl J Med. 1983 Apr 14;308(15):857-61
references: 6132336
references: AJR Am J Roentgenol. 1984 Mar;142(3):467-9
references: 6607625
references: J Nephrol. 2008 Sep-Oct;21(5):793-6
references: 18949737
references: J Am Soc Nephrol. 2009 Mar;20(3):629-37
references: 19158356