以肾源性尿崩症为首发症状的急性淋巴细胞白血病1例
抽象的
急性淋巴细胞白血病是最常见的儿童恶性肿瘤，其特征是发烧、贫血、出血以及由原始细胞侵入器官引起的症状。
This is a case report of a 9-year-old Asian patient with acute lymphoblastic leukemia who presented with polyuria alone as a presenting feature without any other clinical manifestation; primary renal disease or inherited metabolic disease was highly suspected. However, the water deprivation test and water deprivation pressurization test suggested nephrogenic diabetes insipidus, and the renal biopsy displayed diffuse lymphocytic infiltration in the renal interstitium. Bone marrow aspiration was performed immediately, and a comprehensive diagnosis of B-lymphoblastic leukemia was finally made.
肾脏白血病母细胞浸润多无症状，本例提示可表现为肾性尿崩症，充分说明急性淋巴细胞白血病髓外浸润表现多样，当患者以肾性尿崩症为首发症状时，查找病因时应考虑血液系统肿瘤浸润的可能，及时做骨髓细胞学检查。
介绍
白血病是一组危及生命的血液和骨髓恶性肿瘤，而原始细胞具有浸润和增殖到身体各个组织和器官的特征性能力。然而，原始细胞对器官的浸润与白血病的预后不良有关[1]。髓外受累的主要部位是中枢神经系统 (CNS) 和睾丸 [2]。原始细胞直接浸润肾脏的发生率很高（高达 50%），但很少出现明显的临床症状 [3]。白血病相关的肾脏损害可导致蛋白尿、血尿甚至肉眼血尿、高血压、肾功能不全、急性小管间质性肾炎、肾小管酸中毒、急性尿酸性肾病、腰痛和急性肿瘤溶解综合征[4,5,6,7]。在这里，我们报告一例首发以肾源性尿崩症为症状的 ALL 病例。
病例报告
This case report involves a 9-year-old Asian boy who was admitted to our hospital with polyuria, vomiting, and generalized malaise for 3 months. He had no obvious medical history, including kidney or blood diseases. He also had no special family history, social history, intravenous drug history, or travel history. Three months before coming to our hospital, the child had experienced an increase in urination for no apparent reason. In the beginning, the child had a urine output of about 9.7 ml/kg/hour. He visited a local hospital and underwent some relevant examinations. Complete hemogram was normal except for mild anemia; serum potassium was 1.64 mmol/L, serum chlorine was 110 mmol/L, and other electrolytes were normal. Serum lactate dehydrogenase (LDH) was 155 U/L. Ultrasound examination showed no hepatosplenomegaly or lymphadenopathy but suggested bilateral renal enlargement with diffuse lesions (right kidney 9.2 cm × 4.9 cm × 3.7 cm, left kidney 9.4 cm × 5.2 cm × 3.9 cm). The local hospital made the following diagnoses: severe hypokalemia, diabetes insipidus, and renal tubular acidosis. The patient received treatments such as correcting acidosis, supplementing potassium, protecting the kidney, and protecting gastric mucosa. The patient was treated in the local hospital for 1 week, but the child’s polyuria still did not improve, and his urine output was still 9 ml/kg/hour, so he was then transferred to our hospital for further treatment. When he came to our hospital, his body temperature was 36.5 ℃, pulse was 78 beats per minute, respiratory rate was 20 breaths per minute, blood pressure was 128/76 mmHg, weight was 30 kg, height was 144 cm, muscle strength was 4 grade in the whole-body examination with no lymphadenopathy, and no abnormalities were found in the nervous system and other systems during the examination. Laboratory tests proved no significant abnormalities in complete blood counts, severe hypokalemia, metabolic acidosis, and renal tubular dysfunction. Critical laboratory findings are presented in Table1. Head + whole-spine magnetic resonance imaging (MRI) showed the following results: (1) no obvious abnormality in the head, cervical spine, thoracic spine, or lumbar spine; (2) renal volume was markedly elevated; (3) pituitary gland without suggestive lesion. Water deprivation test and water deprivation pressurization test (Table2) excluded central diabetes insipidus. In summary, the primary diagnoses were nephrogenic diabetes insipidus, renal tubular acidosis, and severe hypokalemia. The following treatments were then given immediately: intravenous drip and oral potassium chloride supplements (up to 500 mg/kg/hour); hydrochlorothiazide 3 mg/(kg·day) combined with indomethacin 1 mg/(kg·day); oral desmopressin 0.4 mg (time, q8h); intravenous infusion of methylprednisolone 1 mg/(kg·day) to improve renal interstitial lesions. We initially believed it to be primary renal disease because the child only had bilateral renal enlargement and nephrogenic diabetes insipidus, therefore the child underwent a renal biopsy. After 1 month of treatment, the electrolyte level of the child was stable and the limb muscle strength was improved. Therefore, the child was discharged from hospital awaiting the results of renal biopsy and fully penetrant genetic testing. After his discharge, the following protocol for treatment was advised: potassium citrate extended-release tablets to supplement potassium, a bailing capsule to protect the kidney, and prednisone to improve kidney function. Prednisone dosage was 15 mg/day, taken in the morning. After 15 days of oral administration, the patient’s renal pathological results returned as follows: (1) diffuse lymphoid cell infiltration in the renal interstitium, which we considered to be derived from the lymphatic and hematopoietic system tumors; (2) mild-to-moderate renal tubular atrophy and interstitial fibrosis (Fig.1); (3) sections of the kidney immunofluorescently stained (Table3). Whole-exome sequencing suggestedSCN4Agene mutation: hypokalemic periodic paralysis type 2 (OMIM: 613345) (Fig.2). He was immediately notified by phone to follow up

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