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2017 ; 18
(1
): 110
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Antenatal nephromegaly and propionic acidemia: a case report
#MMPMID28359305
Bernheim S
; Deschênes G
; Schiff M
; Cussenot I
; Niel O
BMC Nephrol
2017[Mar]; 18
(1
): 110
PMID28359305
show ga
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. CASE PRESENTATION: 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. CONCLUSION: 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.