Primary hyperoxaluria type 1

Primary hyperoxaluria type 1

CASE PRESENTATION
An 11-year-old girl presented to her local nephrology service in Pakistan with a five-month history of fever, bilateral loin pain, and progressive weight loss. Over the preceding one to two months, she had also developed dysuria and intermittent vomiting.

She was born by normal vaginal delivery at term and there were no perinatal problems. At three years of age, she was said to have passed a calculus, but no investigations were performed at that time. Her only other significant past history was a single febrile illness associated with vomiting at four years of age, when a presumptive diagnosis of urinary tract infection was made. Unfortunately, no urine was sent for culture, although she was treated with antibiotics and made a full recovery.

Her parents, who were first cousins, both were in good health, as were her four sisters and one brother. There was some uncertainty as to whether she and her siblings were from the same marriage.


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