ESPN 50th Annual Meeting

ESPN 2017


 
A COLLAPSING GLOMERULOPATHY IN A CHILD WITH BARDET-BIEDL SYNDROME
RANDULA RANAWAKA 1 MERANTHI FERNANDO 3 RUWANGI DISSANAYAKE 1 THARANGA JAYATUNGE 2 MANOJI GAMAGE 2 PUJITHA WICKRAMASINGHE 1

1- DEPARTMENT OF PAEDIATRICS, UNIVERSITY OF COLOMBO
2- LADY RIDGEWAY HOSPITAL FOR CHILDREN, COLOMBO
3- DEPARTMENT OF PAEDIATRICS, UNIVERSITY OF KELANIYA
 
Introduction:

Bardet-Biedl syndrome (BBS) is a multisystem disorder due to a ciliopathy with autosomal recessive inheritance. The cardinal features are pigmentary retinopathy, central obesity, postaxial polydactyly, mental retardation, hypogonadism and renal abnormalities.Renal involvement with progressive deterioration in renal function was recognized as a major cause of morbidity and mortality. Different renal histological pictures were reported in BBS including tubulo-interstitial lesions, focal segmental glomerulo- sclerosis and renal cysts. To our knowledge this is the first reported case of collapsing glomerulopathy with progressive deterioration in renal function in a child with BBS.

Material and methods:

A 9 year old girl with BBS presented with nephrotic range proteinuria and advanced chronic kidney disease. Her serum creatinine was 169µmol/l (serum creatinine value recorded 6 months back was 79µmol/l) giving estimated glomerular filtration rate of 23mls/min/1.73mand urine protein/creatinine ratio was 467mg/mmol. Serum albumin was 27g/l and serum cholesterol was high.Examination revealed minimal oedema with elevated blood pressure (146/102mmHg).  

USS revealed normal renal sizes with markedly increased cortical echogenicity with loss of cortico-medullary demarcation. Her renal biopsy showed only 1/23 of viable glomeruli and 22/23 glomeruli with tuft collapse and peri-glomerular fibrosis. She was treated with ACE inhibitors and calcium channel blockers.

Results:

After 6 months of treatment her urine protein/creatinine ratio has reduced to 87mg/mmol. Last recorded blood pressure was 112/76mmHg. But serum creatinine has increased to 184µmol/l.

Conclusions:

Children with BBS are at higher risk of renal impairment. They can present with nephrotic range proteinuria and ACE inhibitors are effective in decelerating the progression. Collapsing glomerulopathy is a rare histological sub type in BBS which could be associated with adverse prognosis.