Neneman Jan, Niedziela Marek, Dyrka Kamil, Banaszak-Ziemska Magdalena, Miedziarek Cezary, Obara-Moszynska Monika, Szczawinska-Popłonyk Aleksandra
Department of Pediatric Pulmonology, Allergy and Clinical Immunology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznań, Poland.
Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznań, Poland.
J Pediatr Endocrinol Metab. 2025 Jun 20;38(9):946-955. doi: 10.1515/jpem-2025-0112. Print 2025 Sep 25.
The pediatric common variable immunodeficiency (CVID) is the most prevalent symptomatic antibody deficiency characterized by a marked heterogeneity of genetic underpinnings, immune system dysfunctions, and clinical manifestations encompassing susceptibility to infections and immune dysregulation disorders, thus increasing autoimmunity. Endocrinopathies associated with CVID have multifactorial etiology and usually lead to hypofunction of the affected organs. The aim of the study was to evaluate the parameters of endocrine homeostasis in children with CVID and to ascertain whether endocrinopathies are components belonging to the spectrum of organ-specific immunopathologies associated with this condition.
The study cohort comprised 22 children (aged 5-17 years) with a confirmed diagnosis of CVID who were undergoing immunoglobulin replacement therapy. A range of anthropometric and hormonal parameters related to growth, thyroid, parathyroid, adrenal glands function, and calcium-phosphate metabolism were assessed.
Antithyroid peroxidase antibodies were identified in 81.81 % of children, while antipancreatic islet (GAD-Ab) antibodies were present in 59.09 %. Among those without preexisting diabetes, 50 % exhibited low C-peptide levels, while 35 % demonstrated both positive GAD-Ab and low C-peptide, with one case displaying elevated HbA. Vitamin D3 deficiency was identified in 50 % of patients, and 40.91 % exhibited elevated parathormone levels, suggestive of secondary hyperparathyroidism.
Endocrinopathies, particularly autoimmune thyroiditis, are prevalent in pediatric CVID, reflecting the condition's immune dysregulation. Regular monitoring of clinical and hormonal parameters is essential for the provision of multidisciplinary care and the enhancement of patient outcomes.
儿童常见变异型免疫缺陷病（CVID）是最常见的有症状的抗体缺陷病，其特点是基因基础、免疫系统功能障碍和临床表现具有显著异质性，包括易感染和免疫失调疾病，从而增加自身免疫性。与CVID相关的内分泌病病因多因素，通常导致受影响器官功能减退。本研究的目的是评估CVID患儿的内分泌稳态参数，并确定内分泌病是否属于与该疾病相关的器官特异性免疫病理谱的组成部分。
研究队列包括22名确诊为CVID且正在接受免疫球蛋白替代治疗的儿童（年龄5 - 17岁）。评估了一系列与生长、甲状腺、甲状旁腺、肾上腺功能以及钙磷代谢相关的人体测量和激素参数。
81.81%的儿童检测出抗甲状腺过氧化物酶抗体，59.09%的儿童存在抗胰岛细胞（GAD - Ab）抗体。在无糖尿病病史的儿童中，50%的儿童C肽水平较低，35%的儿童GAD - Ab阳性且C肽水平较低，1例儿童糖化血红蛋白升高。50%的患者存在维生素D3缺乏，40.91%的患者甲状旁腺激素水平升高，提示继发性甲状旁腺功能亢进。
内分泌病，尤其是自身免疫性甲状腺炎，在儿童CVID中很常见，反映了该疾病的免疫失调。定期监测临床和激素参数对于提供多学科护理和改善患者预后至关重要。
