Severe growth delay has been treated with growth hormone replacement for 3 years. He is about the size and weight of a 6 year old. He is on potassium replacement and Rocaltrol. He has not had renal calculi. Urine shows calcium to be low.
Serum calcium runs high normal on treatment.
Urine Amino acids show increased amounts of threonine, citrulline, cystine, and alanine. Platelets run in the 400 to 500 hundreds. Mild normo-cytic anemia is noted. He has been reviewed by three renal experts. There is no consensus about his diagnosis.