Approach to the Infant with Ambiguous Genitalia

We all have subjects that are difficult to learn. And since difficulty sometimes breeds resentment, some of us tend to spend a little less time reading subjects we don't like. This propagates the difficulty.

For me, the whole issue of ambiguous genitalia was difficult to understand. Until now ...

McCune-Albright Syndrome

I've always tried to memorize the features of this board-favorite syndrome, but it's hard to memorize features that don't (at first glance) appear to "fit together". Until now ...

Pathophysiology of Vesicoureteral Reflux

Vesicoureteral reflux is the abnormal backflow of urine from the bladder to the ureter and/or kidney. When the affected individual voids, the urinary bladder contracts. The urine is supposed to leave through the urethra, but if the vesicoureteral junction is abnormal some urine will be forced back up into the ureter. How bad is the junction? How much urine goes up rather than down? These are the questions that determine the grading of reflux, established by the International Reflux Grading system.

Pathophysiology of Polycystic Kidney Disease

In my continuing quest to understand the actual "why" and "how" behind all pediatric conditions, today I will be working on one of the cystic dysplasias of the kidney - autosomal recessive polycystic kidney disease (ARPKD). This condition results from a mutation in the PKHD1 gene at chromosomal locus 6p12.2. This gene's product, fibrocystin, is found in kidney, liver, and pancreas (this helps you remember the organs involved in ARPKD)

As a reminder, autosomal dominant polycystic kidney disease (ADPKD) is the ADULT type (see what I did there?)