Madharia Adarsh A, Khadanga Sagar, Mahant Seema P, Sukumar M
General Medicine, All India Institute of Medical Sciences, Bhopal, Bhopal, IND.
Cureus. 2025 Jul 7;17(7):e87406. doi: 10.7759/cureus.87406. eCollection 2025 Jul.
Hemolytic uremic syndrome (HUS) is a rare but serious condition in adults, typically characterized by a triad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI). While most commonly associated with pediatric populations and Shiga toxin-producing (STEC), adult-onset cases remain underrecognized, especially in resource-limited settings like India. We report the case of a 35-year-old male patient who presented with a low-grade fever, bloody diarrhea, jaundice, and dark brown-colored urine. Laboratory evaluation revealed MAHA (hemoglobin: 9.8 g/dL, schistocytes >2%, elevated lactate dehydrogenase), and thrombocytopenia (platelet count 45,400/mm³), and acute kidney injury (AKI) (serum creatinine: 0.45 mg/dL initially, with transient rise). Notably, direct bilirubin was disproportionately elevated (6.5 mg/dL), raising suspicion of hepatic involvement. Blood cultures grew (, though stool cultures were negative. Peripheral smear, elevated reticulocyte count, and absence of disseminated intravascular coagulation (DIC) supported the diagnosis of typical HUS. ADAMTS13 levels, complement assays, and stool Shiga toxin testing were unavailable. The patient also had severe vitamin B12 deficiency, raising consideration of pseudo-thrombotic microangiopathy (pseudo-TMA), which was concurrently treated. He later developed non-cardiogenic pulmonary edema, managed with corticosteroids and supportive therapy. He was discharged on hematinics, and follow-up at two months revealed hemoglobin improvement to 10.2 g/dL and full renal recovery. This case highlights the diagnostic and therapeutic challenges in adult HUS, especially with overlapping features of pseudo-TMA and potential infectious triggers. The absence of definitive diagnostic modalities like ADAMTS13 testing necessitated reliance on clinical scoring, peripheral smear, and exclusion of mimickers. The elevated direct bilirubin and rare pulmonary involvement broadened the clinical complexity. Early recognition and supportive care led to favorable outcomes. Yet the inability to completely exclude atypical causes such as -associated HUS (Sp-HUS) and B12 deficiency imposes a clinical challenge. Adult HUS remains a diagnostic challenge due to its rarity, atypical presentations, and limited access to confirmatory testing in many settings. This case emphasizes the need for systematic evaluation, awareness of differential diagnoses like pseudo-TMA and Sp-HUS, and timely supportive management. It also contributes to the growing literature on adult HUS in India, underscoring the importance of clinical vigilance in atypical hemolytic syndromes.
溶血尿毒综合征(HUS)在成人中虽罕见但病情严重,典型表现为微血管病性溶血性贫血(MAHA)、血小板减少和急性肾损伤(AKI)三联征。虽然HUS最常与儿科人群及产志贺毒素大肠杆菌(STEC)相关,但成人发病病例仍未得到充分认识,在印度等资源有限的地区尤其如此。我们报告了一例35岁男性患者,其表现为低热、血性腹泻、黄疸和深褐色尿液。实验室检查显示存在MAHA(血红蛋白:9.8 g/dL,裂体细胞>2%,乳酸脱氢酶升高)、血小板减少(血小板计数45,400/mm³)和急性肾损伤(AKI)(血清肌酐:初始为0.45 mg/dL,并短暂升高)。值得注意的是,直接胆红素显著升高(6.5 mg/dL),这引发了对肝脏受累的怀疑。血培养有生长(此处原文缺失具体内容),而粪便培养为阴性。外周血涂片、网织红细胞计数升高以及无弥散性血管内凝血(DIC)支持典型HUS的诊断。未进行ADAMTS13水平检测、补体检测及粪便志贺毒素检测。该患者还存在严重的维生素B12缺乏,需考虑同时治疗假性血栓性微血管病(pseudo-TMA)。他后来发展为非心源性肺水肿,采用糖皮质激素和支持治疗。出院时给予补血剂,两个月后的随访显示血红蛋白改善至10.2 g/dL,肾功能完全恢复。该病例突出了成人HUS诊断和治疗中的挑战,尤其是存在pseudo-TMA的重叠特征和潜在感染诱因。由于缺乏ADAMTS13检测等明确的诊断方法,必须依靠临床评分、外周血涂片以及排除类似疾病。直接胆红素升高和罕见的肺部受累增加了临床复杂性。早期识别和支持治疗带来了良好的结果。然而,无法完全排除非典型病因,如补体相关HUS(Sp-HUS)和B12缺乏,这带来了临床挑战。成人HUS因其罕见性、非典型表现以及在许多情况下难以获得确诊检测,仍然是一个诊断难题。该病例强调了系统评估的必要性、对pseudo-TMA和Sp-HUS等鉴别诊断的认识以及及时的支持性管理。它也为印度关于成人HUS的不断增加的文献做出了贡献,强调了在非典型溶血性综合征中临床警惕的重要性。