De Sanctis V, Stea S, Savarino L, Scialpi V, Traina G C, Chiarelli G M, Sprocati M, Govoni R, Pezzoli D, Gamberini R, Rigolin F
Department of Paediatric and Adolescent Medicine, Arcispedale St. Anna, Ferrara, Italy.
J Pediatr Endocrinol Metab. 1998;11 Suppl 3:827-33.
An auxological and endocrinological study was performed in 21 thalassaemic patients with growth retardation and skeletal dysplasia secondary to desferrioxamine. Bone metaphyseal proximal tibial or iliac crest biopsy was performed in six patients with severe genu valgum or non-traumatic vertebral compression. GH insufficiency/deficiency (GH deficiency: peak after stimulation test below 6 ng/ml) was found in 72% of our thalassaemic patients with skeletal dysplasia, but in only 41% of patients without skeletal dysplasia. Bone histology showed abnormal chondrocytes, alteration of staining pattern of cartilage, irregular columnar cartilage and lacunae in the cartilaginous tissue. The behaviour of bone tissue was unpredictable (presence of thick or thin osteoid layer). Bone microfractures were sometimes present. The bone microstructure showed scarce mineralization, which was evenly or irregularly distributed. The bone tissue apatitic phase was quantitatively reduced. The hardness of bone tissue was remarkably lower than that of normal bone in three out of six patients. In conclusion, iron chelation therapy in patients with acquired skeletal dysplasia seems to interfere with GH secretion. The early identification of clinical and radiological abnormalities of skeletal dysplasia is of paramount importance in preventing severe bone destruction.
对21例因去铁胺导致生长发育迟缓及骨骼发育异常的地中海贫血患者进行了人体测量学和内分泌学研究。对6例患有严重膝外翻或非创伤性椎体压缩的患者进行了胫骨近端或髂嵴骨的干骺端活检。在患有骨骼发育异常的地中海贫血患者中，72%发现生长激素分泌不足/缺乏（生长激素缺乏：刺激试验后峰值低于6 ng/ml），而在无骨骼发育异常的患者中仅为41%。骨组织学显示软骨细胞异常、软骨染色模式改变、软骨组织中柱状软骨不规则及腔隙形成。骨组织的表现不可预测（类骨质层厚或薄）。有时存在骨微骨折。骨微结构显示矿化稀少，分布均匀或不规则。骨组织磷灰石相在数量上减少。6例患者中有3例骨组织硬度明显低于正常骨。总之，获得性骨骼发育异常患者的铁螯合治疗似乎会干扰生长激素分泌。早期识别骨骼发育异常的临床和影像学异常对于预防严重的骨破坏至关重要。
