Srinivas Keerthana, Tyagi Vernika, Mahajan Akanksha, Mantan Mukta
Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.
Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India.
CEN Case Rep. 2025 Aug 12. doi: 10.1007/s13730-025-01025-x.
The primary defect in distal renal tubular acidosis (dRTA) is impaired H ion secretion in the distal nephron, resulting in a normal anion gap metabolic acidosis. The solute carrier family 4-member 1 (SLC4A1) gene encodes the erythroid and renal anion exchanger 1 (AE1) protein for chloride-bicarbonate exchange. Mutations in the gene can result in hereditary dRTA, red blood cell membrane defect, and hemolytic anemia. Chronic granulomatous disease (CGD) is a rare primary immunodeficiency syndrome caused by NADPH oxidase deficiency, leading to impaired neutrophil and phagocyte function, and thus predisposing the patient to multiple bacterial infections. Melioidosis is a rare infection caused by Burkholderia pseudomallei and is often linked to CGD. Here we present an interesting case of an 8-year-old girl with melioidosis secondary to CGD. Also, she had nephrocalcinosis, metabolic acidosis, hypercalciuria, and anemia. The simultaneous presence of distal RTA (Pathogenic homozygous SLC4A1 mutation on whole exome sequencing) and CGD has not been reported previously and reiterates the importance of detailed clinical evaluation combined with investigations for the long-term management of such complex cases.
远端肾小管酸中毒（dRTA）的主要缺陷是远端肾单位氢离子分泌受损，导致正常阴离子间隙代谢性酸中毒。溶质载体家族4成员1（SLC4A1）基因编码用于氯-碳酸氢根交换的红细胞和肾阴离子交换蛋白1（AE1）。该基因的突变可导致遗传性dRTA、红细胞膜缺陷和溶血性贫血。慢性肉芽肿病（CGD）是一种由NADPH氧化酶缺乏引起的罕见原发性免疫缺陷综合征，导致中性粒细胞和吞噬细胞功能受损，从而使患者易患多种细菌感染。类鼻疽是由伪马鼻疽杆菌引起的一种罕见感染，常与CGD相关。在此，我们报告一例有趣的病例，一名8岁女孩继发于CGD的类鼻疽。此外，她还患有肾钙质沉着症、代谢性酸中毒、高钙尿症和贫血。此前尚未报道远端RTA（全外显子测序发现致病性纯合SLC4A1突变）和CGD同时存在的情况，这再次强调了详细临床评估结合检查对于此类复杂病例长期管理的重要性。
