title: Antenatal nephromegaly and propionic acidemia: a case report.
abstract: BACKGROUND
  Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far.
  
  
  METHODS
  We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life. At 3 months of life, he presented with tachypnea and altered mental status, which lead to the diagnosis of PA. The renal ultrasound at 8 months of life, after a symptomatic treatment of PA had been initiated, showed a regression of the renal abnormalities.
  
  
  CONCLUSIONS
  This case describes PA as a novel cause of large and hyperechogenic kidneys in the antenatal period. It suggests that, when confronted to fetal nephromegaly, hyperechogenic kidneys and risk factors of metabolic disease such as consanguineous parents, PA should be considered, and a prenatal test should be proposed.
authors.affiliation: Pediatric Nephrology Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France. bernheim.segolene@gmail.com.
authors.forename: Ségolène
authors.initials: S
authors.lastname: Bernheim
authors.affiliation: Pediatric Nephrology Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France.|Paris Diderot University, Paris, France.
authors.forename: Georges
authors.initials: G
authors.lastname: Deschênes
authors.affiliation: Metabolic Diseases Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France.|Paris Diderot University, Paris, France.
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff
authors.affiliation: Radiology Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Cussenot
authors.affiliation: Pediatric Nephrology Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France.|Molecular Bases of Hereditary Kidney Diseases, Inserm U1163 - Sorbonne Paris Cité - Paris Descartes University, 24 boulevard du Montparnasse, 75015, Paris, France.|Paris Diderot University, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Niel
mesh_terms: D058186:Acute Kidney Injury / Q000151:congenital* / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D011247:Pregnancy; D056693:Propionic Acidemia / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal / Q000379:methods*; D014564:Urogenital Abnormalities / Q000000981:diagnostic imaging*
keywords: Antenatal diagnosis; Case report; Metabolic disease; Neonatal renal failure; Nephromegaly; Propionic acidemia