背景肾源性尿崩症(NDI)是一种罕见的肾脏疾病,可以是先天性的,并且是由水通道蛋白2或精氨酸加压素受体2的突变引起的,或者它可以继发于肾脏疾病或电解质失衡。NDI的临床症状包括多尿,补偿性多饮,高钠血症脱水,没有及时治疗的生长迟缓。在这份报告中,我们介绍了1例先天性NDI患者,后来被诊断为急性淋巴细胞白血病(ALL).用地塞米松治疗,他有不受控制的多尿和多饮。我们的目标是专注于类固醇对肾脏的影响。病例报告我们的患者在9个月大时出现严重脱水的迹象,并伴有多尿。他的实验室检查显示高钠血症和尿液渗透压降低。他被诊断为NDI,他的外显子组序列显示在核苷酸位置AQP2NM_000486.6:c.374C>T(p。Thr125Met)。他接受氢氯噻嗪和阿米洛利治疗。然后,在19个月大的时候,患者出现胃肠炎,全血细胞计数(CBC)显示高白细胞计数和母细胞。他被诊断出患有(ALL)并开始接受化疗,在此期间再次出现多饮和多尿,这不能通过增加氢氯噻嗪的剂量来控制。结论我们报告了一例罕见的由水通道蛋白2基因错义突变引起的NDI病例。一年后,孩子发展了一切,地塞米松治疗导致多饮和多尿的未补偿状态。
BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin receptor 2, or it can be secondary to kidney disease or electrolyte imbalance. The clinical signs of NDI include polyuria, compensatory polydipsia, hypernatremic dehydration, and growth retardation without prompt treatment. In this report, we present the
case of a patient with congenital NDI who was later diagnosed with acute lymphoblastic leukemia (ALL). With dexamethasone treatment, he had uncontrolled polyuria and polydipsia. Our aim was to concentrate on the impact of steroids on the kidneys.
CASE REPORT Our patient presented at the age of 9 months with signs of severe dehydration that were associated with polyuria. His laboratory examinations revealed hypernatremia and decreased urine osmolality. He was diagnosed with NDI and his exome sequence revealed a homozygous mutation at the nucleotide position AQP2 NM_000486.6: c.374C>T (p.Thr125Met). He was treated with hydrochlorothiazide and amiloride. Then, at age 19 months, he presented with gastroenteritis and a complete blood count (CBC) showed high white blood cell count and blast cells. He was diagnosed with (ALL) and began receiving chemotherapy, during which again developed polydipsia and polyuria, which could not be controlled with an increased dosage of hydrochlorothiazide. CONCLUSIONS We report a rare
case of NDI caused by a missense mutation in the aquaporin 2 gene. One year later, the child developed ALL, and treatment with dexamethasone led to an uncompensated state of polydipsia and polyuria.