Elidrissy Abdelwahab T H
College of Medicine, University of Science and Technology, Omdurman, Sudan.
Calcif Tissue Int. 2016 Sep;99(3):227-36. doi: 10.1007/s00223-016-0146-2. Epub 2016 May 31.
Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets.
先天性佝偻病是指出生时即具有佝偻病临床特征的胎儿，但出生时仅有佝偻病生化证据而无明显临床特征的仍可视为隐匿性先天性佝偻病。一些患有这种疾病的婴儿在子宫内存在佝偻病环境，但钙的胎盘转运泵可防止胎儿出现佝偻病的临床特征。他们可能在出生后几天出现低钙血症，或以后出现更明显的佝偻病特征。过去40年报道的具有明显特征的先天性佝偻病病例较少，可分为两组。第一组是由于母亲严重骨软化症，其骨骼严重脱钙，无法向胎儿输送足够的钙。另一组是由于母亲的其他疾病，如吸收不良、乳糜泻、先兆子痫和早产，导致新生儿低钙血症。所有遗传性佝偻病病例本身或作为其他综合征的一部分都可视为先天性佝偻病。在我们地区看到的大多数病例是由于母亲维生素D缺乏，当婴儿母乳喂养时症状变得明显，或可能出现低钙惊厥或颅骨软化。本文对先天性佝偻病进行综述，旨在阐明这种潜在的急性疾病，在新生儿期需要更多关注和认识，以避免罕见的严重并发症，如心肌病或骨髓纤维化以及低钙惊厥的并发症。先天性佝偻病病例就像冰山一角，其预防是一个重要问题，尤其是在城市化进程中高楼林立，人们居住在缺乏阳光的公寓中成为最常见的居住类型，导致母亲骨软化症和佝偻病发病率不断上升的情况下。
