Bernheim Ségolène, Deschênes Georges, Schiff Manuel, Cussenot Isabelle, Niel Olivier
Pediatric Nephrology Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France.
Paris Diderot University, Paris, France.
BMC Nephrol. 2017 Mar 30;18(1):110. doi: 10.1186/s12882-017-0535-4.
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.
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.
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.
丙酸血症（PA）是一种罕见但严重的常染色体隐性疾病，在生命的最初几年表现为非特异性症状。产前诊断具有侵入性（羊膜穿刺术），且仅限于疑似病例。目前尚未描述过筛查试验，特别是迄今为止尚未记录到产前超声检查与PA之间的相关性。
我们报告一例患有胎儿双侧肾肿大和肾回声增强以及新生儿急性肾损伤的男婴病例；在生命的最初几个月未发现病因。在3个月大时，他出现呼吸急促和精神状态改变，进而诊断为PA。在开始对PA进行对症治疗后，8个月大时的肾脏超声检查显示肾脏异常有所消退。
本病例将PA描述为产前时期肾脏肿大和回声增强的新病因。这表明，当面对胎儿肾肿大、肾回声增强以及诸如近亲结婚等代谢疾病风险因素时，应考虑PA，并建议进行产前检查。
