Background

Polyuria is a common problem in patients with tubular diseases, especially for those with CKD and high-output Fanconi syndrome. There are currently no guidelines on how to treat debilitating polyuria, in children or adults, and vasopressin is usually not effective.

Case-diagnosis/treatment

A 13-year-old female with idiopathic Fanconi syndrome and an eGFR of 69 mL/min/1.73 m² was severely affected by polyuria of 5 L per day (voiding at least 11 times during the day and up to 8 times at night), impacting her mood (measured by the RCADS-child) and academic performance at school. In the absence of guidelines and with literature discouraging the use of indomethacin in this condition, we attempted indomethacin treatment at a dose of 2 mg/kg divided in two doses with substantial success. Urine output dropped to 2.5L and this was accompanied by a substantial decrease of her sodium wasting from 24.6 to 7.7 mmol/kg/day. Over the course of 18 months, the patient’s eGFR dropped temporarily to 60 mL/min/1.73 m² and was 68 mL/min/1.73 m² at last follow-up. However, a sodium-23 (²³Na) MRI of her thigh revealed ongoing moderate sodium decrease in her skin and substantial Na⁺ decrease in her muscle when compared to age-matched peers with normal kidney function.

Conclusions

Indomethacin may be a safe and effective treatment option for polyuria in idiopathic Fanconi syndrome.

中文翻译：

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特发性范可尼综合征重度多尿的处理

背景

多尿是肾小管疾病患者的常见问题，尤其是对于患有 CKD 和高输出范可尼综合征的患者。目前没有关于如何治疗儿童或成人虚弱性多尿的指南，而且加压素通常无效。

病例诊断/治疗

^{一名患有特发性 Fanconi 综合征且 eGFR 为 69 mL/min/1.73 m 2}的 13 岁女性受到每天 5 L 多尿的严重影响（白天至少排尿 11 次，晚上最多排尿 8 次） ，影响她的情绪（由 RCADS 孩子衡量）和在学校的学习成绩。在没有指南且文献不鼓励在这种情况下使用消炎痛的情况下，我们尝试以 2 mg/kg 的剂量分两次服用消炎痛治疗，并取得了很大的成功。尿量降至 2.5 升，同时她的钠消耗量从 24.6 大幅减少至 7.7 mmol/kg/天。在 18 个月的过程中，患者的 eGFR 暂时降至 60 mL/min/1.73 m ²和 68 mL/min/1.73 m ²最后跟进。然而，与肾功能正常的同龄人相比，她大腿的钠 23 ( ²³ Na) MRI 显示，她的皮肤中钠持续中度减少，肌肉中 Na ^{+大量减少。}

结论

消炎痛可能是特发性范可尼综合征多尿症的一种安全有效的治疗选择。