Abstract:
:We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years, whose aetiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal concentrations of urinary glyceric and glycolic acid as well as stones of idiopathic calcium-oxalate appearance. Furthermore, the dietary survey showed excessive consumption of food supplements containing massive amounts of oxalate precursors. However, the persistence of excessive hyperoxaluria after his eating habits was changed leading us to perform molecular genetic testing. We found heterozygous mutations of the recently PH3-associated HOGA1 gene when sequencing PH genes. This is the first description of late diagnosis primary PH3 in a patient with several additional pro-lithogenic factors. This case illustrates the importance of undertaking a complete biological work-up to determine the aetiology of hyperoxaluria. This may reveal underdiagnosed primary hyperoxaluria, even in older patients.
journal_name
Ann Clin Biochemjournal_title
Annals of clinical biochemistryauthors
Richard E,Blouin JM,Harambat J,Llanas B,Bouchet S,Acquaviva C,de la Faille Rdoi
10.1177/0004563216677101subject
Has Abstractpub_date
2017-05-01 00:00:00pages
406-411issue
3eissn
0004-5632issn
1758-1001pii
0004563216677101journal_volume
54pub_type
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