Anna was diagnosed with “pneumonia” by the local hospital since she was a year old. Anna likes drinking water after birth, from 3 months of age, there was a low fever occurred in the morning, after drinking water, heat can be retired. It’s a helpless situation for any parent to be in.
Our answer came through genetic testing. The doctor suggested the baby girl to undergo whole exome sequencing to seek the genetic cause of the disease. The result showed that Anna carried the AQP2 gene p. M1I and p. G165D mutations. The related gene in the OMIM database is renal diabetes insipidus, and the main clinical manifestation is: short stature, vomiting, constipation, poor feeding, polydipsia, polyuria, seizures, and repeated dehydration, patients may have mental retardation and irritability, etc. Through genetic testing to determine the cause of the disease, it is possible to prevent dehydration in an accurate manner. I just wish everyone could have their answer much sooner in the diagnostic process, as early detection can make all the difference in the world.