Late diagnosis of primary hyperoxaluria type 1 despite recurrent kidney stones and positive family history

Abstract

Primary hyperoxaluria type 1 (PH1) is the most common form of primary hyperoxalurias. It results in increased synthesis and subsequent urinary excretion of the metabolic end product oxalate and the deposition of insoluble calcium oxalate in the kidney and urinary tract. Individuals with PH1 are at high risk for recurrent nephrolithiasis, nephrocalcinosis, and end-stage renal disease (ESRD). A 13 years-old female presented with fatigue, headache, nausea, vomiting, anorexia, renal colic. Initial clinical and laboratory investigations revealed ESRD and the patient was initiated on hemodialysis. Family history of PH1 and a history of recurrent kidney stones for 4 years was elicited. Subsequently, PH1 was confirmed by, physical examination, medical history, family history, laboratory tests, ultrasound imaging, X- ray, CT scanning and renal biopsy. As this disease is no longer rare in Jenin District of Palestine where this patient was seen, delayed diagnosis can not be justified. In conclusion, early diagnosis and effective treatment of PH1 in areas with high prevalence, such as the Jenin District of Palestine, is warranted as it may delay the progression towards ESRD or systemic oxalosis.