Siskind Samantha M, Yadav Sakshi, Solomon Melinda, Knapp Philip E, Menn-Josephy Hanni, Francis Jean, Rennke Helmut G, Ayalon Rivka, Modzelewski Katherine L
Section of Endocrinology, Diabetes, Nutrition & Weight Management, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts.
Section of Nephrology, Boston University Chobanian & Avedisian School of Medicine, Evans Biomedical Research Center, Boston, Massachusetts.
AACE Clin Case Rep. 2024 Aug 24;10(6):244-248. doi: 10.1016/j.aace.2024.08.007. eCollection 2024 Nov-Dec.
BACKGROUND/OBJECTIVE: Medullary thyroid cancer often results in elevated calcitonin levels, which can cause localized formation of calcitonin amyloid, though rarely complications of systemic calcitonin amyloidosis have been reported. The objective of this report is to encourage awareness of calcitonin amyloid causing nephrotic syndrome in patients with metastatic medullary thyroid cancer.
A 65-year-old woman with weakness, fatigue, anasarca, anemia, thrombocytopenia, venous and arterial thrombi, and a cavitary right lung lesion was transferred for care. She had a 14-year history of metastatic medullary thyroid cancer, status post-thyroidectomy and tyrosine kinase inhibitor therapy, adrenocorticotropic hormone-dependent Cushing syndrome in remission, and recently diagnosed nephrotic syndrome. On admission, she had lower extremity edema and scattered ecchymoses. Labs showed creatinine 0.62 mg/dL (0.7-1.3 mg/dL), morning cortisol >119.6 ug/dL (4-23 ug/dL), adrenocorticotropic hormone 426 pg/mL (6-50 pg/mL), 24-hour urine cortisol 6115.2 mcg/24 h (4-50 mcg/24 h), calcitonin 39 373 pg/mL (≤5 pg/mL), and carcinoembryonic antigen level 484.8 ng/mL (0-4.9 ng/mL). Kidney biopsy showed amyloidosis, which stained positive for calcitonin.
Systemic calcitonin amyloidosis is not well-documented in medullary thyroid cancer. To our knowledge, there are 2 previous case reports describing nephrotic syndrome secondary to calcitonin amyloid in the setting of medullary thyroid cancer.
This case supports a small body of evidence that metastatic medullary thyroid cancer can result in systemic calcitonin amyloidosis and its complications, including nephrotic syndrome. Clinicians should consider nephrotic syndrome as a potential complication in patients with metastatic medullary thyroid cancer, particularly in those with long-standing calcitonin elevation and characteristic symptoms.
背景/目的:甲状腺髓样癌常导致降钙素水平升高,这可引起降钙素淀粉样蛋白的局部形成,不过全身性降钙素淀粉样变性的并发症鲜有报道。本报告的目的是提高对转移性甲状腺髓样癌患者中降钙素淀粉样蛋白导致肾病综合征的认识。
一名65岁女性因虚弱、疲劳、全身性水肿、贫血、血小板减少、动静脉血栓形成及右肺空洞性病变而转诊接受治疗。她有14年转移性甲状腺髓样癌病史,已行甲状腺切除术及酪氨酸激酶抑制剂治疗,促肾上腺皮质激素依赖性库欣综合征已缓解,近期诊断为肾病综合征。入院时,她有下肢水肿及散在瘀斑。实验室检查显示肌酐0.62mg/dL(0.7 - 1.3mg/dL)、晨皮质醇>119.6μg/dL(4 - 23μg/dL)、促肾上腺皮质激素426pg/mL(6 - 50pg/mL)、24小时尿皮质醇6115.2μg/24h(4 - 50μg/24h)、降钙素39373pg/mL(≤5pg/mL)及癌胚抗原水平484.8ng/mL(0 - 4.9ng/mL)。肾活检显示淀粉样变性,降钙素染色呈阳性。
全身性降钙素淀粉样变性在甲状腺髓样癌中的记录并不充分。据我们所知,之前有2例病例报告描述了甲状腺髓样癌患者中降钙素淀粉样蛋白继发的肾病综合征。
该病例支持了一小部分证据,即转移性甲状腺髓样癌可导致全身性降钙素淀粉样变性及其并发症,包括肾病综合征。临床医生应将肾病综合征视为转移性甲状腺髓样癌患者的潜在并发症,尤其是那些降钙素长期升高且有特征性症状的患者。