Lebl J, Zemková D, Kolousková S, Snajderová M
II. dĕtská klinika 2. LF UK a FN Praha-Motol.
Cas Lek Cesk. 1995 Mar 22;134(6):166-9.
Physiological growth is a sensitive long-term indicator of child health. Impaired growth of children may be the first manifestation of a serious chronic disease. In order to find a rational examination procedure, the authors analyzed retrospectively the diagnosis in children with impaired growth who were referred for examination to the university hospital.
In the course of 5.5 years 190 children (boys/girls, 124/66) with short stature, age 2.5 to 16.5 years were examined. In 93 (68/25, 48.9%) the condition was classified as short-normal, i.e. short but healthy, incl. 25 (11/14, 13.2%) with familial short stature, in 26 (21/5, 13.7%) constitutional growth retardation (and retarded puberty) and in 42 (36/6, 22.1%) a combination of the two conditions. In 97 children (56/41, 51.1%) a pathological condition was found: in 14 girls (7.4%) Turner's syndrome, in 55 children (37/18, 29.0%) deficiency of growth hormone, incl. 11 as a results of a tumour or anomaly of the CNS, and in 28 children (19/9, 14.7%) another serious cause of a growth disorder. In three families the authors detected an autosomal dominant disorder in a parent-child pair, the parent not being aware of the disorder (renal tubular acidosis, vitamin D resistant rickets, hypochondroplasia). Based on analysis of these data the authors suggest a rational differential diagnostic procedure in children with short stature.
The stepwise examination of children with short stature is based on the unequivocal differentiation of short-normal children and assessment of the cause of the growth disorder in the other affected children. The procedure is focused on a sparing, rapid and accurate diagnosis with subsequent early treatment of children with a serious pathological condition.
生理生长是儿童健康的一项敏感的长期指标。儿童生长发育受损可能是严重慢性疾病的首发表现。为了找到合理的检查程序，作者回顾性分析了转诊至大学医院进行检查的生长发育受损儿童的诊断情况。
在5.5年的时间里，对190名年龄在2.5至16.5岁的身材矮小儿童（男/女，124/66）进行了检查。其中93例（68/25，48.9%）被归类为正常矮小，即身材矮小但健康，包括25例（11/14，13.2%）家族性矮小，26例（21/5，13.7%）体质性生长发育迟缓（伴青春期发育迟缓）以及42例（36/6，22.1%）两者兼有的情况。在97名儿童（56/41，51.1%）中发现了病理状况：14名女孩（7.4%）患有特纳综合征，55名儿童（37/18，29.0%）生长激素缺乏，其中11例是由于中枢神经系统肿瘤或异常所致，28名儿童（19/9，14.7%）存在另一种导致生长障碍的严重原因。在三个家庭中，作者在亲子对中检测到常染色体显性疾病，父母对此疾病并不知晓（肾小管酸中毒、维生素D抵抗性佝偻病、软骨发育不全）。基于这些数据分析，作者提出了身材矮小儿童合理的鉴别诊断程序。
身材矮小儿童的逐步检查基于明确区分正常矮小儿童以及评估其他受影响儿童生长障碍的原因。该程序旨在进行适度、快速且准确的诊断，并随后对患有严重病理状况的儿童进行早期治疗。
