ESPN 51th Annual Meeting

ESPN 2018


 
ASSOCIATION OF HEREDITARY FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS WITH BARTTER SYNDROME: A CASE REPORT
Burcu Yazıcıoğlu 1 Bahar Büyükkaragöz 1 Bedriye Nuray Alpman 1 İpek Işık Gönül 2 Fatih Süheyl Ezgü 3 Necla Buyan 1 Sevcan A. Bakkaloğlu 1

1- GAZI UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- GAZI UNIVERSITY, DEPARTMENT OF PATHOLOGY
3- GAZI UNIVERSITY, DEPARTMENT OF PEDIATRIC METABOLISM AND NUTRITION
 
Introduction:

Bartter syndrome is a renal tubular disease characterized with hypokalemic metabolic alkalosis. Focal and segmental glomerosclerosis (FSGS), however, is a glomerular disease which can have a hereditary cause. We present an infant diagnosed with both entities.

Material and methods:

43-days old female was referred to our clinic with the complaints of failure to thrive and vomiting. Her results showed hypokalemic, hypochloremic metabolic alkalosis, creatinine: 0.1 mg/dl, albumin: 3.27 gr/dl and ++++ proteinuria. Antenatal history was positive for toxoplasmosis and parents were first degree relatives.  She was admitted to the clinic and electrolyte disturbances were treated. Toxoplasma IgM and IgG were negative. She was treated as Bartter Syndrome with indomethacin and oral potassium supplementation. At 9 months of age, severe hypoalbuminemia and massive proteinuria (313 mg/m2/h) were noticed.

Results:

Genetic mutations for Bartter syndrome were negative while MYO1E  mutation was homozygous positive. 2 mg/kg oral prednisolone was started and renal biopsy was performed. Histopathology revealed FSGS-NOS type; wide, luminal calcium phosphate deposits in distal tubule segments; moderate interstitial fibrosis and tubular atrophy; immune florescence study was negative. Renal ultrasound showed grade 2-3 increased parenchymal echogenicity without emergence of nephrocalcinosis. At the end of 8-weeks of oral prednisolone, spot urine protein/creatinine ratio was 14mg/mg, indicating steroid resistance. Due to weak oral nutrition and low percentiles, she is also taking additional nutritional support.

Conclusions:

This case is presented in order to demonstrate the rare association of hereditary form of FSGS with a clinical picture of Bartter syndrome. The underlying mechanisms of this association needs to be elucidated.