Antenatal nephromegaly and propionic acidemia: a case report.
Antenatal nephromegaly and propionic acidemia: a case report.
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DOI：
10.1186/s12882-017-0535-4
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发表时间：
2017-03-30
期刊：
影响因子：
2.3
通讯作者：
Niel O
中科院分区：
文献类型：
--
作者：
Bernheim S;Deschênes G;Schiff M;Cussenot I;Niel O
丙酸血症（PA）是一种罕见但严重的隐性常染色体疾病，在生命的最初几年出现非特异性体征。产前诊断是侵入性的（羊膜穿刺术），仅限于疑似病例。迄今为止，没有任何筛查试验被描述，特别是产前超声检查和PA之间没有相关性。我们报告的情况下，男孩胎儿双侧肾畸形和高回声肾脏，以及新生儿急性肾损伤；在生命的最初几个月没有发现病因。在3个月大时，他出现呼吸急促和精神状态改变，这导致了PA的诊断。在开始对症治疗PA后，8个月的肾脏超声显示肾脏异常消退。本病例描述了PA作为一个新的原因大和高回声肾在产前期。提示，当遇到胎儿肾脏畸形、高回声肾脏及近亲父母等代谢性疾病的危险因素时，应考虑PA，并建议进行产前检查。
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.