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Antenatal nephromegaly and propionic acidemia: a case report.

Ségolène Bernheim¹, Georges Deschênes^2,3, Manuel Schiff^4,3

¹Pediatric Nephrology Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France. bernheim.segolene@gmail.com.

|April 1, 2017

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Propionic acidemia (PA) can cause large, hyperechogenic fetal kidneys. Early diagnosis is crucial, especially with risk factors like consanguinity, enabling timely intervention.

Area of Science:

Biochemistry
Genetics
Pediatric Nephrology

Background:

Propionic acidemia (PA) is a severe autosomal recessive metabolic disorder.
PA presents with nonspecific symptoms, complicating early diagnosis.
Prenatal diagnosis of PA is invasive and typically reserved for suspected cases.

Observation:

A case report details a male infant with antenatal bilateral nephromegaly and hyperechogenic kidneys.
The infant experienced neonatal acute kidney injury and later presented with tachypnea and altered mental status.
Renal abnormalities showed regression after PA diagnosis and symptomatic treatment.

Findings:

Propionic acidemia is identified as a novel cause of fetal nephromegaly and hyperechogenic kidneys.
The study highlights the association between specific prenatal ultrasound findings and PA.

Keywords:

Antenatal diagnosis Case report Metabolic disease Neonatal renal failure Nephromegaly Propionic acidemia

Related Experiment Videos

Renal manifestations of PA can be reversible with early intervention.

Implications:

Suggests considering PA in fetuses with unexplained nephromegaly and hyperechogenic kidneys.
Recommends prenatal testing for PA in cases with suggestive ultrasound findings and risk factors (e.g., consanguinity).
Emphasizes the importance of integrating metabolic screening into prenatal diagnostics for congenital kidney abnormalities.