Patient's question:
When checking for 48 diseases in newborns, it was said that there is a condition called "scrofula." My friend wants to know what the symptoms are, how severe it is, and if it can be cured. Also, what does it mean if there is a genetic abnormality in the 48-item newborn disease screening?Doctor's answer:
Currently, the screening methods in our country mainly include rare diseases such as phenylketonuria and congenital hypothyroidism. Some regions will add other items according to actual needs, such as G6PD deficiency, congenital adrenal hyperplasia, galactosemia, etc. A total of 48 genetic metabolic diseases are screened out, which belong to family cases. For most people, the necessity is not very high, but for children with a family history of genetic diseases, it is very necessary to combine it with family history. After all, many diseases can be avoided or alleviated from long-term serious consequences through early diagnosis and early treatment.