Saeedi Vahid, Rahimzadeh Nahid, Ehsanipour Fahimeh, Shalbaf Neda, Farahi Amirhosein, Rashidi Khalil, Kamalzadeh Leila
Pediatric Growth and Development Research Center, Institute of Endocrinology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Department of Pediatrics, School of Medicine, Hazrate-e Rasool General Hospital, Iran University of Medical Sciences, Tehran, Iran.
BMC Pediatr. 2025 Jan 4;25(1):1. doi: 10.1186/s12887-024-05311-y.
This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition.
A 2-year-old Iranian female presented with steroid-resistant nephrotic syndrome (NS), primary adrenal insufficiency (AI), growth delay, seizures, and hyperpigmentation. Laboratory evaluation revealed hypoalbuminemia, significant proteinuria, hyperkalemia, and elevated adrenocorticotropic hormone (ACTH) levels. The patient was diagnosed with SPLIS through genetic testing, revealing a c.1018 C > T variant in SGPL1. Despite supportive treatment, including corticosteroids and cyclosporine, the patient's condition deteriorated, leading to end-stage renal disease and sepsis, ultimately resulting in death.
This case underscores the clinical heterogeneity of SPLIS and the importance of early genetic evaluation in patients with combined NS and AI. Personalized management approaches and increased awareness among clinicians are essential to improve patient outcomes.
本病例报告描述了由一种罕见的SGPL1变异引起的鞘氨醇-1-磷酸裂解酶缺乏综合征（SPLIS）的独特表现，突出了与该病症相关的诊断和管理挑战。
一名2岁伊朗女性出现类固醇抵抗性肾病综合征（NS）、原发性肾上腺功能不全（AI）、生长发育迟缓、癫痫发作和色素沉着过度。实验室检查显示低白蛋白血症、大量蛋白尿、高钾血症以及促肾上腺皮质激素（ACTH）水平升高。通过基因检测，该患者被诊断为SPLIS，结果显示SGPL1基因存在c.1018 C>T变异。尽管接受了包括皮质类固醇和环孢素在内的支持性治疗，但患者病情仍恶化，导致终末期肾病和脓毒症，最终死亡。
本病例强调了SPLIS的临床异质性以及对合并NS和AI患者进行早期基因评估的重要性。个性化管理方法以及提高临床医生的认识对于改善患者预后至关重要。
