A 6 y/o female is seen by her pediatrician because her mother became concerned w

Question

A 6 y/o female is seen by her pediatrician because her mother became concerned with her small stature and low weight. The physician notes that she is in the 18th percentile in height and 23rd percentile in weight. The mother states that the Px is thirsty ‘all the time’ and urinates constantly. Blood and urine tests show that the Px has hypokalemia, proteinuria, hypophosphatemia, glycosuria, and a blood HCO3 level of 14 mEq/L.   A bone density scan indicates that the Px has osteomalacia. Neither parent has any genetic concerns. When the physician inquired about the child’s eating habits and environment, the mother states that she has a normal diet that includes all the food groups, but she always puts things in her mouth. The family lives in a section of the city that was built in the 1930’s.

*Show cellular mechanisms and diagrams

a)   From these data, what part of the nephon was affected by this pathology? Defend your answer and discuss mechanisms. What is your diagnosis?  

b) Do you think this is a congenital or acquired disease based on the data?

Explanation / Answer

1. The pathology lies in PROXIMAL CONVULATED TUBULES (PCT) since almost 65% reabsorption takes place in in because almost all the ACTIVE TRANSPORT PUMPS and carrier proteins are present here. The patient has NEPHROTIC SYNDROME.

2. As there are no genetic concerns, this is a acquired disease

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