Systemic Oxalosis in Infants: Two Cases and Literature Review

Gunduz Z., Bastug F., Tulpar S., Poyrazoglu H., Akgun H., Dusunsel R.

TURKISH NEPHROLOGY DIALYSIS AND TRANSPLANTATION JOURNAL, cilt.22, sa.2, ss.206-211, 2013 (ESCI, Scopus, TRDizin)

Özet

The infantile form of primary hyperoxaluria is a very rare disease and often presents as a life-threatening condition because of rapid progression to end-stage renal disease and systemic oxalosis. We described two infants with primary hyperoxaluria type 1 (PH1). Persistent severe hyponatremia and hypoalbuminemia were noted in both patients and cerebral and pulmonary involvements of systemic oxalosis were suspected in one patient. Such a severe phenotype of infantile PH1 is an important finding that should be added to the list of manifestations of PH1.