Mittal Aliza, Jain Hritvik, Singh Amarpal, Yadav Taruna, Vishwajeet Vikarn
Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Jodhpur, IND.
Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Jodhpur, IND.
Cureus. 2023 Oct 11;15(10):e46827. doi: 10.7759/cureus.46827. eCollection 2023 Oct.
Primary hyperoxaluria-1 (PH1) is an autosomal recessively inherited rare genetic condition due to the deficiency of the hepatic enzyme alanine:glyoxylate aminotransferase which leads to high systemic levels of oxalate and subsequently, early end-stage renal disease and death. Here, we present a case of a three-month-old male infant who presented with loose stools, reduced oral intake, and decreased activity for 12-13 days along with edema and a peeling rash on cheeks, lips, and genitalia. During the entire duration of the inpatient stay, the child was oligoanuric. Kidney ultrasound (USG) was suggestive of bilateral hyperechoic kidneys with increased cortical echogenicity and a computed tomography scan showed bilateral diffusely calcified renal cortices with well-preserved renal architecture. A diagnosis of "oxalate nephropathy" was made from renal biopsy and genetic testing confirmed it to be "primary hyperoxaluria-1". The child was initially managed conservatively, and then peritoneal dialysis was done, following which the child was shifted to intermittent hemodialysis.
原发性高草酸尿症-1（PH1）是一种常染色体隐性遗传的罕见遗传病，由于肝脏酶丙氨酸：乙醛酸转氨酶缺乏，导致全身草酸盐水平升高，进而引发早期终末期肾病和死亡。在此，我们报告一例3个月大男婴，其出现腹泻、进食减少、活动减少12至13天，伴有水肿以及脸颊、嘴唇和生殖器部位的脱皮皮疹。在住院期间，患儿一直少尿无尿。肾脏超声（USG）提示双侧肾脏回声增强，皮质回声增加，计算机断层扫描显示双侧肾皮质弥漫性钙化，肾脏结构保存完好。肾活检诊断为“草酸盐肾病”，基因检测证实为“原发性高草酸尿症-1”。患儿最初接受保守治疗，随后进行了腹膜透析，之后转为间歇性血液透析。
