巴特特综合征呈现为阿尔金因-压素耐药性:两例病例报告
Maria Sousa1, Regina Medeiros2, Ana Luísa Rodrigues1
1Department of Pediatrics, Hospital Divino Espírito Santo, Ponta Delgada, Portugal.
The American journal of case reports
|June 17, 2024
概括
巴特特综合征是一种罕见的遗传性脏疾病,在最初的错误诊断后,在两个婴儿身上被诊断出. 早期识别和治疗导致了显著的临床改善和知情的遗传咨询.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 儿科内分泌学 儿科内分泌学
- 医学遗传学 医学遗传学
背景情况:
- 巴特特综合征是一种罕见的遗传盐浪费管状病变,影响脏离子运输.
- 它导致过度的前列腺素E2,高血症的高阿尔多斯特主义,以及各种婴儿并发症.
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