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儿童骨痛的罕见病因:腺瘤所致原发性甲状旁腺功能亢进症

[A rare cause of bone pain in children: primary hyperparathyroidism caused by adenoma].

作者信息

Kauffmann C, Leroy B, Sinnassamy P, Carlioz H, Gruner M, Bensman A

机构信息

Service de Néphrologie, Hôpital Trousseau, Paris.

出版信息

Arch Fr Pediatr. 1993 Nov;50(9):771-4.

PMID:8060206
Abstract

BACKGROUND

Primary hyperparathyroidism is rare in children and adolescents. Bone changes may produce pain in the back or extremities, but this is rarely the first symptom of the disease.

CASE REPORT

A 13 year-old girl suffered from pain in the back and lower extremities. Progressive bilateral genu valgum appeared. One year later, she became lame because of the deformity. ECG showed cardiac arrhythmia with atrial extra systoles. The serum calcium concentrations were 3.36 and 3.8 mmol/l, phosphate 0.76 mmol/l and alkaline phosphatases 6,612 U/I (N: 90-300). Urinary excretion of calcium was 17 and 26 mg/kg/day and the renal tubular reabsorption of phosphate was 77%. Radiological studies revealed resorption of subperiosteal bone, best seen along the margins of the phalanges, demineralization of the skull vault, bilateral coxa vara and zones of calcification on knee metaphyses. The serum concentration of parathyroid hormone (PTH) was 1,066 pg/ml (N: 10-55) and that of 1-25(OH)2D3 was 125 ng/ml (N: 20-80). Ultrasonography showed a heterogeneous mass, 23 x 15 mm, suggesting a parathyroid adenoma. This adenoma was independent of the left inferior parathyroid. It was removed and the biochemical findings gradually returned to normal. Bone demineralization also disappeared and the knee deformities were surgically corrected 9 months later.

CONCLUSIONS

Bone changes may occasionally cause severe pain, indicating demineralization and hypercalcemia: hyperparathyroidism is one cause of such changes.

摘要

背景

原发性甲状旁腺功能亢进在儿童和青少年中较为罕见。骨骼变化可能导致背部或四肢疼痛,但这很少是该疾病的首发症状。

病例报告

一名13岁女孩出现背部和下肢疼痛。逐渐出现双侧膝外翻。一年后,她因畸形而跛行。心电图显示心律失常伴房性早搏。血清钙浓度分别为3.36和3.8 mmol/l,磷酸盐为0.76 mmol/l,碱性磷酸酶为6612 U/I(正常范围:90 - 300)。尿钙排泄量为17和26 mg/kg/天,肾小管对磷酸盐的重吸收为77%。影像学研究显示骨膜下骨质吸收,以沿指骨边缘最为明显,颅骨穹窿脱矿,双侧髋内翻以及膝关节干骺端钙化区。甲状旁腺激素(PTH)血清浓度为1066 pg/ml(正常范围:10 - 55),1,25(OH)₂D₃血清浓度为125 ng/ml(正常范围:20 - 80)。超声检查显示一个大小为23×15 mm的不均匀肿块,提示甲状旁腺腺瘤。此腺瘤独立于左下甲状旁腺。将其切除后,生化指标逐渐恢复正常。骨脱矿也消失,9个月后手术矫正了膝关节畸形。

结论

骨骼变化偶尔可能导致严重疼痛,提示脱矿和高钙血症:甲状旁腺功能亢进是此类变化的一个原因。

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Arch Fr Pediatr. 1993 Nov;50(9):771-4.
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Genu valgum in children with primary hyperparathyroidism: A case series with a review of the literature.原发性甲状旁腺功能亢进症患儿的膝外翻:病例系列及文献综述
J Family Med Prim Care. 2024 Dec;13(12):5912-5916. doi: 10.4103/jfmpc.jfmpc_914_24. Epub 2024 Dec 9.
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Windswept Deformity: A Rare Skeletal Manifestation in an Adolescent with Primary Hyperparathyroidism.风蚀样畸形:原发性甲状旁腺功能亢进青少年患者中一种罕见的骨骼表现。
J ASEAN Fed Endocr Soc. 2024;39(2):86-91. doi: 10.15605/jafes.039.02.10. Epub 2024 Aug 1.
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Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report.
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BMC Endocr Disord. 2023 Mar 31;23(1):71. doi: 10.1186/s12902-023-01328-z.
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Bilateral Genu Valgum in an Adolescent with Primary Hyperparathyroidism: A Case Report and Review of Literature.一名原发性甲状旁腺功能亢进青少年的双侧膝外翻:病例报告及文献复习
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[Unusual mode of revelation of primary hyperparathyroidism in young subjects: about two cases].[年轻患者原发性甲状旁腺功能亢进的不寻常发病方式:两例报告]
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