We report a patient with refractory ascites because of portal hypertension caused by hemochromatosis secondary to osteopetrosis. To our knowledge, this is the first well-documented case of this association. A 46-year-old male patient who was repeatedly infused with red blood cells for anemia secondary to osteopetrosis suffered from refractory ascites. The serum-ascites albumin gradient was 29.9 g/L. Abdominal computed tomography (CT) showed a large amount of ascites, hepatomegaly, and splenomegaly. Bone marrow biopsy showed a small bone marrow cavity with no hematopoietic tissue. A peripheral blood smear showed tear drop red blood cells and metarubricytes. Serum ferritin was 8,855.0 ng/mL. Therefore, we considered that the ascites resulted from portal hypertension caused by hemochromatosis secondary to osteopetrosis. We simultaneously performed the transjungular intrahepatic portal-systemic shunt (TIPS) and obtained a transjungular liver biopsy. The portal pressure gradient before TIPS was 28 mmHg, and iron staining was strongly positive on liver biopsy, which confirmed our diagnosis. After TIPS, both abdominal distention and ascites gradually resolved, and no recurrence as observed after the 12-month postoperative follow-up was observed. This case indicated that regular monitoring of iron load is important for patients with osteopetrosis. TIPS is safe and effective for portal hypertension complications due to osteopetrosis.

中文翻译：

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继发性血色素沉着症引起的门静脉高压难治性腹水。

我们报告了一名因骨石症继发血色素沉着症引起门静脉高压而出现难治性腹水的患者。据我们所知，这是该协会第一个有据可查的案例。一名46岁男性患者，因骨石症继发性贫血，多次输注红细胞，出现顽固性腹水。血清-腹水白蛋白梯度为29.9 g/L。腹部计算机断层扫描（CT）显示大量腹水、肝肿大、脾肿大。骨髓活检显示骨髓腔较小，无造血组织。外周血涂片显示泪滴状红细胞和偏红细胞。血清铁蛋白为 8,855.0 ng/mL。因此，我们认为腹水是骨石症继发血色素沉着症引起门静脉高压所致。我们同时进行了经静脉肝内门体分流术（TIPS）并获得了经静脉肝活检。TIPS前门静脉压力梯度为28mmHg，肝活检铁染色强阳性，证实了我们的诊断。TIPS术后腹胀、腹水均逐渐消退，术后12个月随访未见复发。该病例表明定期监测铁负荷对于骨石症患者非常重要。TIPS 对于骨硬化引起的门脉高压并发症是安全有效的。这证实了我们的诊断。TIPS术后腹胀、腹水均逐渐消退，术后12个月随访未见复发。该病例表明定期监测铁负荷对于骨石症患者非常重要。TIPS 对于骨硬化引起的门脉高压并发症是安全有效的。这证实了我们的诊断。TIPS术后腹胀、腹水均逐渐消退，术后12个月随访未见复发。该病例表明定期监测铁负荷对于骨石症患者非常重要。TIPS 对于骨硬化引起的门脉高压并发症是安全有效的。