Bosin V Iu, Kondrina V V, Mulyk T E, Verbitskaia A I
Vestn Rentgenol Radiol. 1995 Jan-Feb(1):23-7.
In search for x-ray signs of skeletal involvement specific for each type of hereditary tubulopathies, the authors analyze the results of clinical and x-ray examinations of 144 children aged 2 to 16. Vitamin D-resistant rickets which was diagnosed in 83 children was found to be characterized by varus deformations of the lower limb bones, by systemic osteoporosis of various degrees with hypertrophy of the osseous beams in the epimetaphyseal compartments and accelerated bone age. In renal tubular acidosis diagnosed in 28 children the most typical findings were valgus deformation of the lower limb bones, an appreciable deceleration of bone age, systemic osteoporosis with thinning of osseous beams, the degree of bone deformation being the minimal or moderate. In 20 children with the de Toni-Debre--Fanconi disease the most frequent finding were valgus deformations of the lower limb bones, osteoporosis with drastic thinning of osseous beams unrelated to the degree of deformations and deceleration of bone age. Vitamin D-dependent rickets diagnosed in 13 children was characterized by varus deformations of the lower limb bones, hypertrophic osteoporosis, and normal parameters of bone age. Hence, our study demonstrated the possibility and high reliability of x-ray differential diagnosis of various forms of hereditary tubulopathies in children.
为寻找每种遗传性肾小管疾病骨骼受累的X线征象，作者分析了144例2至16岁儿童的临床和X线检查结果。在83例被诊断为维生素D抵抗性佝偻病的儿童中，发现其特征为下肢骨内翻畸形、不同程度的全身性骨质疏松，伴有骺干骺端骨小梁增粗以及骨龄加速。在28例被诊断为肾小管性酸中毒的儿童中，最典型的表现是下肢骨外翻畸形、骨龄明显减慢、全身性骨质疏松伴骨小梁变细，骨变形程度为轻度或中度。在20例患有德托尼 - 德布雷 - 范科尼病的儿童中，最常见的表现是下肢骨外翻畸形、骨质疏松伴骨小梁显著变细，与畸形程度无关且骨龄减慢。在13例被诊断为维生素D依赖性佝偻病的儿童中，其特征为下肢骨内翻畸形、肥厚性骨质疏松以及正常的骨龄参数。因此，我们的研究证明了对儿童各种形式的遗传性肾小管疾病进行X线鉴别诊断的可能性和高度可靠性。
