Roy Ajitesh, Chowdhury Amarta Shankar, Ray Arindam, Baidya Arjun, Roychowdhury Bibek, Sarkar Dasarathi, Sanyal Debmalya, Maisnam Indira, Biswas Kaushik, Pandit Kaushik, Banerjee Mainak, Raychaudhuri Moutusi, Sengupta Nilanjan, Chakraborty Partha Pratim, Mukhopadhyay Pradip, Raychaudhuri Pradip, Sahana Pranab Kumar, Palui Rajan, Bhattacharjee Rana, Mukhopadhyay Sarmistha, Mukhopadhyay Satinath, Ray Sayantan, Goswami Soumik, Chowdhury Subhankar, Pramanik Subhodip, Swar Subir Chandra, Ghosh Sujoy, Mondal Sunetra, Das Tapas Chandra
Department of Endocrinology, Vivekananda Institute of Medical Sciences, Kolkata, India.
Department of Endocrinology, The Mission Hospital, Durgapur, India.
Ann Pediatr Endocrinol Metab. 2024 Oct;29(5):284-307. doi: 10.6065/apem.2448044.022. Epub 2024 Oct 31.
Rickets, one of the leading causes of bony deformities and short stature, can be calciopenic (inciting event is defective intestinal calcium absorption) or phosphopenic (inciting event is phosphaturia). Early diagnosis and timely treatment of rickets are crucial for correction of the limb deformities. Guidelines exist for nutritional rickets, but the diagnosis and management of the relatively uncommon forms of rickets are complex. This consensus aims to formulate a simplified diagnostic approach for rickets, especially in resource-limited settings. The consensus statement has been formulated by a 29-member committee from the Endocrine Society of Bengal. The process included forming a working group, conducting a literature review, identifying controversies, drafting, and discussion at a consensus meeting. Participants rated their agreement with the clinical practice points, and a 70% consensus was required. Input integration and further review led to the final consensus statements. Children with suspected rickets should initially be examined for distinctive skeletal deformities. The diagnosis of rickets should be confirmed with characteristic radiographic abnormalities. It is advisable to order tests for serum calcium, inorganic phosphorus (Pi), liver function, 25-hydroxyvitamin D (25OHD), parathyroid hormone, creatinine, and potassium in all patients with rickets. In cases of refractory rickets, it is also recommended that assessments be conducted for spot urine calcium, Pi, creatinine, and, blood gas analysis. In children with rickets and metabolic acidosis, tests for glycosuria, uricosuria, aminoaciduria, low molecular weight proteinuria, and albuminuria should be conducted. In children with resistant calciopenic rickets and sufficient serum 25OHD levels, serum 1,25(OH)2D concentration should be tested. 1,25(OH)2 D and fibroblast growth factor 23 estimation is useful for certain forms of phosphopenic rickets.
佝偻病是导致骨骼畸形和身材矮小的主要原因之一,可分为钙缺乏性(诱发因素是肠道钙吸收缺陷)或磷缺乏性(诱发因素是磷尿症)。佝偻病的早期诊断和及时治疗对于矫正肢体畸形至关重要。虽然存在营养性佝偻病的指南,但相对罕见形式的佝偻病的诊断和管理较为复杂。本共识旨在制定一种简化的佝偻病诊断方法,尤其是在资源有限的环境中。该共识声明由孟加拉内分泌学会的一个29人委员会制定。制定过程包括组建一个工作组、进行文献综述、确定争议点、起草以及在共识会议上进行讨论。参与者对临床实践要点进行了同意程度的评分,需要达成70%的共识。意见整合和进一步审查得出了最终的共识声明。疑似佝偻病的儿童最初应检查是否有明显的骨骼畸形。佝偻病的诊断应通过特征性的影像学异常来确认。建议对所有佝偻病患者进行血清钙、无机磷(Pi)、肝功能、25-羟维生素D(25OHD)、甲状旁腺激素、肌酐和钾的检测。对于难治性佝偻病病例,还建议进行尿钙、Pi、肌酐的即时检测以及血气分析。对于患有佝偻病和代谢性酸中毒的儿童,应进行糖尿、尿酸尿、氨基酸尿、低分子量蛋白尿和白蛋白尿的检测。对于患有抵抗性钙缺乏性佝偻病且血清25OHD水平充足的儿童,应检测血清1,25(OH)2D浓度。1,25(OH)2D和成纤维细胞生长因子23的测定对于某些形式的磷缺乏性佝偻病很有用。