A case of chyluria with nephrotic-range proteinuria caused by lymphatic malformation, leading to a diagnosis of Klippel-Trenaunay syndrome
A case of chyluria with nephrotic-range proteinuria caused by lymphatic malformation, leading to a diagnosis of Klippel-Trenaunay syndrome
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淋巴管畸形引起乳糜尿伴肾病范围蛋白尿一例，诊断为 Klippel-Trenaunay 综合征
DOI：
10.1007/s13730-022-00747-6
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发表时间：
2022
期刊：
影响因子：
1
通讯作者：
Mukoyama Masashi
中科院分区：
文献类型：
--
作者：
Izumi Yuichiro;Date Ryosuke;Mizumoto Teruhiko;Nakagawa Terumasa;Kakizoe Yutaka;Adachi Masataka;Kuwabara Takashige;Mukoyama Masashi
Klippel-Trenaunay综合征（KTS）是一种罕见的综合征，临床上诊断为单侧肢体肥大伴皮肤毛细血管、静脉和淋巴管等血管畸形。大多数病例通常表现为皮肤表现，如葡萄酒色斑和婴儿期肢体肥大，但轻度表现的病例可能仍未确诊。我们在此报告一个偶然被诊断为乳糜尿的KTS病例。一个15岁的女孩谁表现出血乳糜尿与肾病范围蛋白尿被转介到我们医院。她过去曾被诊断为特发性脊柱侧凸伴左下肢肥大。两个月前，她第一次注意到自己的尿液呈乳白色。此后，她立即发现左腿水肿。我们的初次尿液检查发现有血色素尿及肾病蛋白尿。磁振造影显示腹膜后左侧髂总静脉沿着有静脉或淋巴管畸形。放射性造影显示胰腺背面至左肾门周围放射性同位素充血，提示存在淋巴淤滞。根据这些发现，我们诊断患者为KTS。入院后，乳糜尿和蛋白尿减少，卧床休息三天后变得不明显。左腿水肿减轻。在采取避免剧烈运动的指导后，她在两周内出院。由于该病例表现较轻，首次通过尿液异常做出诊断。该病例提示，我们应该意识到存在未确诊的KTS患者，由于相对较轻的表现。
Klippel–Trenaunay syndrome (KTS) is a rare syndrome, which is clinically diagnosed by the presence of unilateral limb hypertrophy with vascular malformation including cutaneous capillaries, veins and lymphatic vessels. Most cases typically exhibit cutaneous manifestations such as port-wine stains and limb hypertrophy from infancy, but cases with mild manifestations may remain undiagnosed. We here report a case of KTS who was diagnosed by chance chyluria. A 15-year-old girl who exhibited hematochyluria with nephrotic-range proteinuria was referred to our hospital. She had been diagnosed as idiopathic scoliosis accompanied by left lower limb hypertrophy in the past. She noticed her milky urine for the first time two months before. Immediately thereafter, she noticed edema of her left leg. Hematochyluria with nephrotic-range proteinuria was found by our initial urine examination. Magnetic resonance imaging suggested venous or lymphatic malformation along the left common iliac vein at the retroperitoneal side. Lymphoscintigraphy showed congestion of radioisotope around backside of the pancreas to the left renal hilus, suggesting an existence of lymphostasis. Based on the findings, we diagnosed the patient as KTS. After admission, hematochyluria and proteinuria were decreased and became insignificant by three days with bed rest. Her left leg edema was reduced. After taking a guidance to avoid intensive exercise, she was discharged in two weeks. Because the present case exhibited mild manifestations, diagnosis was made by urine abnormalities for the first time. The case suggests that we should be aware of the presence of undiagnosed patients of KTS due to relatively mild manifestations.