Elderly-onset calcinosis of hyperphosphataemic familial tumoural calcinosis/hyperostosis-hyperphosphataemia syndrome: the role of comorbid scleroderma.

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM
Hiroaki Iwasaki
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引用次数: 0

Abstract

Summary: A 73-year-old woman with type 2 diabetes mellitus was referred to our department for glycaemic control. Physical examination revealed two subcutaneous hard masses around the left shoulder and the right hip joint. The patient could not fully extend her fingers because of skin sclerosis in both hands. Laboratory studies showed hyperphosphataemia and a high ratio of renal tubular maximum reabsorption of phosphate to glomerular filtration rate. There were no abnormalities in serum calcium, creatinine, alkaline phosphatase, and intact parathyroid hormone levels, whereas serum fibroblast growth factor 23 was low. Hyperphosphataemic familial tumoural calcinosis/hyperostosis-hyperphosphataemia syndrome (HFTC/HHS) was diagnosed using whole genome sequencing that revealed a novel frameshift beyond the 584th threonine located in the lectin domain of UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 associated with a duplication of the 1748th thymine in the coding region of the corresponding gene. Furthermore, anti-nuclear, anti-centromere, and anti-cardiolipin antibodies were positive, implying that comorbid limited type scleroderma might play a role in tumoural calcinosis (TC) development. A low phosphate diet was prescribed with phosphate-lowering medications, including aluminium hydroxide, acetazolamide, and sevelamer hydrochloride. The patient displayed a decrease in serum phosphate levels from 6.5 to 5.5 mg/dL 10 months after the initiation of treatment, but her TC had not improved during treatment for more than 1 year. This case was interesting because the patient with HFTC/HHS exhibited TC despite being over her 60s, and subsequent scleroderma might contribute to the specific clinical course. When HFTC/HHS presents with elderly-onset TC, the involvement of comorbidities in exacerbating TC should be considered.

Learning points: HFTC/HHS occurs on an autosomal recessive basis, but its clinical course and manifestations differ significantly throughout the cases. HFTC/HHS may be undiagnosed until later in life because of its rarity, unfamiliarity, and phenotype diversity; therefore, HFTC/HHS should be included in the differential diagnosis of elderly patients with unexplained hyperphosphataemia or ectopic calcinosis. Comorbidities, including rheumatologic disorders, may contribute to developing HFTC/HHS-associated calcinosis.

Abstract Image

Abstract Image

Abstract Image

高磷血症家族性肿瘤的老年性钙沉着症高磷血症综合征:硬皮病合并症的作用。
摘要:一位73岁的2型糖尿病妇女被转诊到我们的血糖控制部门。体格检查发现左肩和右髋关节周围有两个皮下硬块。由于双手皮肤硬化,患者无法完全伸展手指。实验室研究显示,高磷血症和肾小管对磷酸盐的最大再吸收与肾小球滤过率的比率很高。血清钙、肌酸酐、碱性磷酸酶和完整的甲状旁腺激素水平没有异常,而血清成纤维细胞生长因子23较低。高磷血症家族性肿瘤钙化/高脂血症高磷血症综合征(HFTC/HHS)是通过全基因组测序诊断的,该测序揭示了位于UDP-N-乙酰-α-D-半乳糖胺凝集素结构域的第584个苏氨酸之外的一个新的移码:多肽N-乙酰半乳糖胺转移酶3与相应的基因。此外,抗核抗体、抗着丝粒抗体和抗心磷脂抗体均呈阳性,表明共病局限型硬皮病可能在肿瘤钙化(TC)的发展中发挥作用。在低磷酸盐饮食中,开有降磷酸盐药物,包括氢氧化铝、乙酰唑胺和盐酸司维拉姆。患者在开始治疗10个月后,血清磷酸盐水平从6.5 mg/dL降至5.5 mg/dL,但她的TC在治疗期间超过1年没有改善。这个病例很有趣,因为HFTC/HHS患者尽管60多岁,但仍表现出TC,随后的硬皮病可能会导致特定的临床过程。当HFTC/HHS表现为老年性TC时,应考虑合并症对TC恶化的影响。学习要点:HFTC/HHS发生在常染色体隐性遗传的基础上,但其临床病程和表现在不同病例中有显著差异。HFTC/HHS由于其罕见、不熟悉和表型多样性,可能要到晚年才能确诊;因此,应将HFTC/HHS纳入不明原因高磷血症或异位钙沉着症老年患者的鉴别诊断中。合并症,包括风湿病,可能导致HFTC/HHS相关的钙化。
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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
142
审稿时长
9 weeks
期刊介绍: Endocrinology, Diabetes & Metabolism Case Reports publishes case reports on common and rare conditions in all areas of clinical endocrinology, diabetes and metabolism. Articles should include clear learning points which readers can use to inform medical education or clinical practice. The types of cases of interest to Endocrinology, Diabetes & Metabolism Case Reports include: -Insight into disease pathogenesis or mechanism of therapy - Novel diagnostic procedure - Novel treatment - Unique/unexpected symptoms or presentations of a disease - New disease or syndrome: presentations/diagnosis/management - Unusual effects of medical treatment - Error in diagnosis/pitfalls and caveats
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