HUM-MOLGEN DIAGnostics/Clinical Research

July, 12 1999
Bartter syndrome

Dear Colleagues -

Our patient is a 9 year old male with a previous history of severe prematurity at 28 weeks.  Birth weight less than 900 grams. Polyhydramnios and cocaine positive urine.  Major alcohol usage and obvious features of fetal alcohol syndrome.  Mild cerebral palsy secondary to IVH. Mild mental deficits.

Hypokalemia was seen in the NICU initially and is persisting to this day. Renal function has dropped to ~30% of normal.  Mild proteinuria is also present.  Severe growth delay has been treated with growth hormone replacement for 3 years.  Ht and wt are both below the 5%ile.  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.

Labs :
Serum calcium runs high normal on treatment. Highest is 10.9mg/dl
Both cholesterol and triglycerides run in mildly elevated ranges - 194 and 273, respectively.
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.
Alk phos is always around 400 (twice normal)
Currently the BUN is 27

Is there anyone interested in testing him for true hypokalemic alkalosis with hypercalciuria (Bartter syndrome)?   As well as other known genetic defects of potassium regulation. ?Gitelman Na-K-2Cl cotransporter gene and/or ROMK potassium channel?  Etc?

He has been reviewed by three renal experts. There is no consensus about his diagnosis.  The adoptive family wishes to know if he is or is not a candidate for transplant (if things get to that point).  Perhaps gene tests might sort out some of this.  Suggestions?

Thank you.

Tony P.

>Anthony Perszyk MD
>Division of Medical Genetics
>Nemours Children's Clinic
>Jacksonville, Florida USA 32207
>TEL#  1-904-390-3726
>FAX#  1-904-390-3422

Anthony Perszyk MD
Division of Medical Genetics
Nemours Children's Clinic
Jacksonville, Florida USA 32207
TEL#  1-904-390-3726
FAX#  1-904-390-3422