即使目前在发达国家,对于儿科医生来说,Rick病也不是不寻常的诊断。儿童通常表现为腿部弯曲,扩大手腕,棘突状念珠(肋软骨连接部肿胀)和/或蹒跚步态。但是,并不是每个有生长迟缓和干干meta扩大的孩子都被诊断出患有病。干phy端发育不良(MAD)是一种严重程度可变的疾病,伴有干phy端扩张和不规则,没有椎体异常.MAD的特点是早期发病和在儿童后期没有治疗的消退过程,尽管身材矮小。基质金属蛋白酶13基因(MMP13)中的常染色体显性或隐性变异是这些短暂的干phy端变化的原因。
我们报告了MMP13中的一种新的致病性杂合变体(NM_002427.4:c.216G>C,p.Gln72His)在一个蹒跚学步的孩子中,一开始被认为是病,和他的父亲,MAD表型。此外,我们回顾了7个报道的MMP13变种.
对于疑似病,应保持广泛的鉴别诊断,包括骨骼发育不良,可能有回归过程。
Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddling gait. But not every child with growth delay and enlarged metaphyses is diagnosed with rickets. Metaphyseal anadysplasia (MAD) is a disorder of variable severity with metaphyseal flaring and irregularities, without vertebral abnormalities. MAD is characterized by an early onset and a regressive course in late childhood without treatment, despite persistent short stature. Autosomal dominant or recessive variants in the matrix metalloproteinase 13 gene (MMP13) are responsible for these transient metaphyseal changes.
We report a new pathogenic heterozygous variant in MMP13 (NM_002427.4: c.216G>C, p.Gln72His) in a toddler, initially thought to have rickets, and his father, with MAD phenotypes. Additionally, we review the seven reported MMP13 variants.
One should keep a wide differential diagnosis in cases of suspected rickets, including skeletal dysplasias which might have a regressive course.