Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria

Pediatric Nephrology

Volumn 27, Issue 8, 2012, Pages 1401-1405

  Menni, Francesca ^a   Testa, Sara ^b   Guez, Sophie ^a   Chiarelli, Gabriella ^a   Alberti, Luisella ^c   Esposito, Susanna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c V BUZZI CHILDREN S HOSPITAL   (Italy)

Author keywords

Cobalamin C disorder; Hemolytic uremic syndrome; Homocystinuria; Methylmalonic acidemia

Indexed keywords

ACETYLCARNITINE; BETAINE; C REACTIVE PROTEIN; CAPTOPRIL; ETACRYNIC ACID; FOLIC ACID; FUROSEMIDE; HOMOCYSTEINE; HOMOCYSTINE; HYDROXOCOBALAMIN; METHYLMALONIC ACID; PROPIONYLCARNITINE;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; CASE REPORT; ELECTROENCEPHALOGRAM; ERYTHROCYTE TRANSFUSION; ESCHERICHIA COLI; FAILURE TO THRIVE; HEART FAILURE; HEART FUNCTION; HEMOLYTIC UREMIC SYNDROME; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; INTENSIVE CARE UNIT; KIDNEY FUNCTION; KIDNEY INJURY; LETHARGY; MALE; METHYLMALONIC ACIDURIA; MUSCLE HYPOTONIA; NYSTAGMUS; PRIORITY JOURNAL; RETINOPATHY; SUCKING; THROMBOCYTOPENIA; VOMITING;

AMINO ACID METABOLISM, INBORN ERRORS; CARRIER PROTEINS; HEMOLYTIC-UREMIC SYNDROME; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; MALE;

EID: 84863980391     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-012-2152-6     Document Type: Article

References (15)

1. Martinelli D, Deodato F, Dionisi-Vici C (2011) Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis 34:127-135
2. Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuro-psychiatric disturbance. Am J Med Genet A 143A:2430-2434 (Pubitemid 47511935)
3. Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C (2011) Cobalamin C defect presenting as severe neonatal hyperammonemia. Eur J Pediatr 170:887-890
4. Van Hove JL, Van Damme-Lombaerts R, Grünewald S, Peters H, Van Damme B, Fryns JP, Arnout J, Wevers R, Baumgartner ER, Fowler B (2002) Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. Am J Med Genet 111:195-201 (Pubitemid 34809504)
5. Kind T, Levy J, Lee M, Kaicker S, Nicholson JF, Kane SA (2002) Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period. J Pediatr Hematol Oncol 24:327-329 (Pubitemid 34506626)
6. Sharma AP, Greenberg CR, Prasad AN, Prasad C (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. Pediatr Nephrol 22:2097-2103 (Pubitemid 350090717)
7. Bouts AH, Roofthooft MT, Salomons GS, Davin JC (2010) CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency. Pediatr Nephrol 25:2547-2548
8. Cruz DN, Bagshaw SM, Ronco C, Ricci Z (2010) Acute kidney injury: classification and staging. Contrib Nephrol 164:24-32
9. Stamler JS, Osborne JA, Jaraki O, Rabbani LE, MullinsM SD, Loscalzo J (1993) Adverse vascular effects of homocysteine are modulated by endothelium-derived relaxing factor and related oxides of nitrogen. J Clin Invest 91:308-318 (Pubitemid 23037286)
10. McCully KS (1993) Chemical pathology of homocysteine. I. Atherogenesis. Ann Clin Lab Sci 23:477-493
11. Whelan DT, Ryan E, Spate M, Morris M, Hurley RM, Hill R (1979) Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy. Can Med Assoc J 120:1230-1235 (Pubitemid 9187458)
12. Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS (2009) Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr 154:551-556
13. Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C (2008) Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. Mol Genet Metab 93:475-480
14. Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype phenotype correlations. Hum Mutat 30:1072-1081
15. Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA (2010) Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab 99:116-123