Tombstone

Abstract

Purpose: Introduction Primary hyperoxaluria Type 1 (PH1) is a rare peroxisomal disorder characterized by enzymatic deficiency of alanine glyoxylate aminotransferease (AGT). In the absence of AGT, glyoxylate converts to oxalate instead of glycine, and as a result, individuals with PH1 suffer from excess oxalate in the serum. We present a case of a young woman from Nicaragua who suffered with multiple renal stones throughout her life and ultimately died secondary to PH1 due to a significant delay in diagnosis. Case Presentation A 33-year-old woman with past medical history of hypertension, end-stage renal disease (ESRD) and congestive heart failure was admitted with worsening bilateral lower extremity pain. She had a long standing history of recurrent kidney stones since age 12 and ultimately developed ESRD at age of 27. Over the last 6 months, she developed worsening peripheral vascular disease with diffuse ulcerations over bilateral legs and presented to our institution. Her urinary excretion of glycolic acid and oxalic acid was elevated and she was homozygous for mutation of ABXT gene diagnostic for PH1. She had severe systemic oxalosis with involvement of skin, retina and peripheral arteries. She had ischemic gangrene of both lower extremities due to severe peripheral vascular disease and died during the process of combined liverkidney transplant evaluation. Discussion PH1 is a rare disease with incidence rates ranged from 4 to 10:1,000,000. In PH1, supersaturation of urine with oxalate leads to nephrolithiasis/nephrocalcinosis and eventually ESRD. When GFR declines to less than 25, without any intervention, patients suffer from systemic oxalosis with oxalate deposition in kidneys, bone and bone marrow, retina, myocardium, blood vessels, peripheral nerves, skin and subcutaneous tissues. Liver transplantation alone or with combined kidney transplantation, depending on the extent of organ involvement, helps to restore organ function and prolong life. Early diagnosis remains the key to successfully manage this potentially curable disease, thus making awareness amongst clinicians vital for patient care.