ESPN 50th Annual Meeting

ESPN 2017


 
INFANTILE NEPHOCALCINOSIS (NC): SEEK AND YOU SHALL FIND!
SIMONA SPADARELLA 1 GABRIELE MALGIERI 1 MARIA TERESA SARAVO 1 FRANCESCA NUZZI 1 VITTORIO SERIO 1 FRANCESCO ESPOSITO 2 PATRIZIA DI MATTEO 1 ILARIA LUONGO 1 CARMINE PECORARO 1

1- UNIT OF NEPHROLOGY AND DIALYSIS, CHILDREN HOSPITAL SANTOBONO, NAPLES, ITALY
2- UNIT OF RADIOLOGY, CHILDREN HOSPITAL SANTOBONO, NAPLES, ITALY
 
Introduction:

 NC in children recognizes many causes, both endogenous and exogenous /iatrogenic nature (eg. Vit D intoxication, diuretics). Among the endogenous early onset causes there are inborn errors of metabolism including primary hyperoxaluria (PH). 

Material and methods:

 We describe the case of a two months and half  infant with bilateral renal medullary hyperechogenicity we found occasionally during hips ultrasonography.

Results:

At the beginning, the patient showed good clinical conditions. The most common causes of nephrocalcinosis, including tubulopathy were excluded since we found good renal function, negative inflammatory markers, normal electrolytes, vitamin D and PTH. Urinary electrolytes-metabolites, proteinuria and amminoaciduria were normal too. Renal ultrasonography confirmed  the presence of renal medullary hyperechogenicity. Computed tomography angiography showed multiple calicealhyperdense images. In order to find inborn errors of metabolism we dosed urinary organic acids which documented an increased level of oxalic acid and glycerine. In the suspect of type 2 PH, molecular analysis was carried out and confirmed the diagnosis.  A hydropinic therapy was started continuing follow-up. Subsequent ultrasound evaluations documented the evolution towards a clear picture of nephrolithiasis. Actually the patient presents normal kidney function with regular height-weight growth.

Conclusions:

Type 2 PH is an extremely rare cause of nephrocalcinosis not so different from type 1; for that reason molecular analysis assumes a discriminating role. The importance of an early diagnosis derives from the possibility to start an early hemodialysis treatment that, in some cases, may prevent the rapid evolution of the pathology towards the widespread nephrolithiasis characterized  by terminal renal insufficiency, systemic oxalosis and multiorgan damage.