巴拉卡特综合征在初次发病几十年后才被确诊。

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-12-20 Print Date: 2023-10-01 DOI:10.1530/EDM-23-0018
Umberto Spennato, Jennifer Siegwart, Britta Hartmann, Elisabeth Julia Fischer, Cecilia Bracco, Joel Capraro, Beat Mueller, Philipp Schuetz, Andreas Werner Jehle, Tristan Struja
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引用次数: 0

摘要

摘要:巴拉卡特综合征又称HDR综合征,是一种罕见的遗传性疾病,包括甲状旁腺功能减退症(H)、感音神经性耳聋(D)和肾病(R)。一名64岁的妇女被转诊到我们的内分泌科门诊,要求更换治疗方案(从双氢甲状腺素改为降钙三醇)。她自18岁起就患有进行性感音神经性耳聋,36岁时被诊断患有特发性甲状旁腺功能减退症。她的病史包括骨质疏松症伴髋部/脊椎骨折、肾结石以及听力损失、骨质疏松症和肾病家族史。患者的临床表现显示患有巴拉卡特综合征。基因分析发现了 GATA3:c.916C>T 无义变异。听力测定、实验室检查和肾脏成像等进一步检查均支持该诊断。由于该病罕见且症状多样,诊断可能具有挑战性。2018年建议进行可选的GATA3检测,但有相关家族史的孤立感音神经性耳聋或肾病病例除外。在没有 "D "和 "R "的孤立 "H "病例中,不需要进行 GATA3 检测,因为没有单倍体缺陷病例的报道。鉴于遗传性疾病的增加,医生应始终如一地考虑有提示性症状的罕见遗传性疾病患者,即使是在发病数十年后。虽然诊断不一定会直接影响治疗,但它有助于患者接受自己的病情,并对家庭产生更广泛的影响:学习要点:目前,新的孤儿病及其致病因子的遗传和临床特征正在显著增加。每次就诊时都有必要对可能的遗传性疾病进行无偏见的再评估。识别特发性甲状旁腺功能减退症的鉴别诊断至关重要。患者的临床表现和家族史对于确定正确的诊断非常重要。医生应毫不犹豫地在网上搜索患者的体征和症状。
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Barakat syndrome diagnosed decades after initial presentation.

Summary: Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). A 64-year-old woman was referred to our endocrinology clinic for a switch in treatment (from dihydrotachysterol to calcitriol). She had progressive sensorineural deafness since the age of 18 and idiopathic hypoparathyroidism diagnosed at age of 36. Her medical history included osteoporosis with hip/spine fractures, nephrolithiasis and a family history of hearing loss, osteoporosis and kidney disease. The patient's clinical presentation indicated Barakat syndrome. Genetic analysis found a GATA3:c.916C>T nonsense variant. Further tests such as audiometry, labs and renal imaging supported the diagnosis. Due to rarity and manifold symptoms, diagnosis can be challenging. Optional GATA3 testing was suggested in 2018, except in cases of isolated sensorineural deafness or renal disease with pertinent family history. In isolated 'H' cases without 'D' and 'R', GATA3 studies are not required, as no haploinsufficiency cases were reported. Given the rise in genetic disorders, physicians should consistently consider rare genetic disorders in patients with suggestive symptoms, even decades after onset. Although diagnosis might not always impact management directly, it aids patients in accepting their condition and has broader family implications.

Learning points: There is currently an important increase in genetic and clinical characterization of new orphan diseases and their causative agents. Unbiased re-evaluation for possible genetic disorders is necessary at every consultation. It is essential to recognize the differential diagnosis of idiopathic hypoparathyroidism. The patient's clinical presentation and family history can be important to establish the correct diagnosis. Physicians should not hesitate to search a patient's signs and symptoms online.

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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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