3 things I learnt 24/08/22
When referring a child to genetics for evaluation of a ?genetic syndrome, always mention the height, weight and head circumference - it’s super important to help them get an idea of what the underlying diagnosis might be.
When an ultrasound report refers to ‘echogenic kidneys’ it means they look brighter than usual. A good trick to determining if the kidneys are echogenic when looking at the images is to compare the R kidney to the liver and the L kidney to the spleen. The kidneys are usually less bright than those organs so it is when they are more bright they are likely to be considered echogenic. You can see in C and D below that the kidney is much brighter than the liver.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133577
Nephronophthisis is an inherited cause of progressive liver disease. The classic story is a previously seemingly well child with a history of polyuria/polydipsia that presents with CKD 5. There are extra-renal associations, typically involving the eye, skeleton, heart, brain and liver.
