Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria

Francesca Menni, Sara Testa, Sophie Guez, Gabriella Chiarelli, Luisella Alberti, Susanna Esposito

Research output: Contribution to journalArticle

Abstract

Background Inborn errors of cobalamin (Cbl) absorption and metabolism form a large group of rare diseases that include Cbl-C disorder. Among the renal complications of Cbl-C disorder, atypical hemolytic uremic syndrome (HUS) is the least common and has been described only in a small number of cases. Case-diagnosis/Treatment Four patients were admitted to our clinic after 15-30 days of life with vomiting associated with poor sucking, failure to thrive, lethargy and hypotonia. Examinations showed thrombocytopenia and microangio-pathic hemolytic anemia associated with renal damage. The neonates had high blood homocysteine levels, increased urinary levels of both homocystine and methylmalonic acid, increased propionylcarnitine (C3) levels and an increased C3/ acetylcarnitine ratio. Homozygosity for c.271-272dupA (p.Arg91LysfsX14) of the MMACHC gene was detected in three patients, and heterozygosity for c.271-272dupA and c.666C > A(p.Tyr222X) in one patient, which confirmed the diagnosis of Cbl-C disorder. Treatment with parenteral hydroxycobalamin in combination with folic acid and betaine gradually normalized the metabolic test findings and hematological and renal parameters after about 1 week. Conclusions Atypical HUS in neonates with Cbl-C disorder may be associated with mild to moderate renal involvement also in early-onset disease, and early adequate therapy can reverse renal damage.

Original languageEnglish
Pages (from-to)1401-1405
Number of pages5
JournalPediatric Nephrology
Volume27
Issue number8
DOIs
Publication statusPublished - Aug 2012

Fingerprint

Homocystinuria
Vitamin B 12
Kidney
propionylcarnitine
Homocystine
Hydroxocobalamin
Methylmalonic Acid
Newborn Infant
Acetylcarnitine
Betaine
Failure to Thrive
Lethargy
Muscle Hypotonia
Hemolytic Anemia
Hematologic Tests
Homocysteine
Rare Diseases
Secondary Prevention
Folic Acid
Thrombocytopenia

Keywords

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

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. / Menni, Francesca; Testa, Sara; Guez, Sophie; Chiarelli, Gabriella; Alberti, Luisella; Esposito, Susanna.

In: Pediatric Nephrology, Vol. 27, No. 8, 08.2012, p. 1401-1405.

Research output: Contribution to journalArticle

Menni, Francesca ; Testa, Sara ; Guez, Sophie ; Chiarelli, Gabriella ; Alberti, Luisella ; Esposito, Susanna. / Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. In: Pediatric Nephrology. 2012 ; Vol. 27, No. 8. pp. 1401-1405.
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