Department of Experimental Medicine, Sapienza University, Rome, Italy.
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
Pediatr Blood Cancer. 2024 Jul;71(7):e30995. doi: 10.1002/pbc.30995. Epub 2024 Apr 14.
Hemochromatosis (HC) is characterized by the progressive accumulation of iron in the body, resulting in organ damage. Endocrine complications are particularly common, especially when the condition manifests in childhood or adolescence, when HC can adversely affect linear growth or pubertal development, with significant repercussions on quality of life even into adulthood. Therefore, a timely and accurate diagnosis of these disorders is mandatory, but sometimes complex for hematologists without endocrinological support. This is a narrative review focused on puberty and growth disorders during infancy and adolescence aiming to offer guidance for diagnosis, treatment, and proper follow-up. Additionally, it aims to highlight gaps in the existing literature and emphasizes the importance of collaboration among specialists, which is essential in the era of precision medicine.
血色病(HC)的特征是体内铁的逐渐积累,导致器官损伤。内分泌并发症尤其常见,特别是在儿童或青少年时期发病时,HC 会对线性生长或青春期发育产生不利影响,对成年后的生活质量产生重大影响。因此,及时准确地诊断这些疾病是必要的,但对于没有内分泌学支持的血液科医生来说,有时会很复杂。这是一篇叙述性综述,重点关注婴儿期和青春期的青春期和生长障碍,旨在为诊断、治疗和适当的随访提供指导。此外,它还旨在突出现有文献中的空白,并强调专家合作的重要性,这在精准医学时代至关重要。