Pitfalls in the management of patients with primary hyperoxaluria: a urologist’s perspective

Abstract

The primary hyperoxalurias are rare, inherited diseases which commonly manifest early in life as urolithiasis. As these patients often present to the urologic surgeon, it is imperative that urologists understand the typical presentation, diagnosis, and management of urolithiasis associated with primary hyperoxaluria. In this review, the pertinent epidemiology and pathogenesis as they relate to the diagnosis and natural history of the disease are discussed. The literature on therapeutic options for primary hyperoxaluric patients with calculi is examined, and treatment strategies are suggested.

Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2

“…The expression of these defective enzymes result in elevated excretion of urinary oxalate leading to urolithiasis, nephrocalcinosis, and finally kidney damage. With the exception of PH3 which has not yet had any reported cases of ESRD , PH1 and 2 lead to ESRD. Additionally, decreased GFR leads to an elevated plasma oxalate concentration and a supersaturation of plasma calcium oxalate causing crystal deposits in most solid organs and the bones .…”

“…Although PH2 is definitively diagnosed following measurement of GRHPR enzyme activity from a liver biopsy and mutation analysis by PCR, urinary and plasma oxalate levels, urine l ‐glycerate, and kidney stone analysis may be used to suggest this diagnosis . Our patient was diagnosed using the results of a liver biopsy as neither a mutational analysis nor urine l ‐glycerate testing was available, although, a negative urine l ‐glycerate result may not exclude PH2 as it can occur without l ‐glycericaciduria .…”

“…Conservative management of patients with PH2 includes high fluid intake, oral calcium supplementation, and inhibition of calcium oxalate crystallization by a sodium or potassium citrate solution . These therapies may prevent or postpone dialysis and transplantation .…”

“…Although recent studies have established the benefits of combined liver-kidney transplantation in PH1 (1,2,8), isolated kidney transplantation is the method of choice in PH2 (3,(9)(10)(11).…”

Primary Hyperoxaluria

“…Therapeutic ' cure ' is not achievable with current technology. The treatment of renal stones is not reviewed here but is covered elsewhere ( Pais & Assimos 2005 ). Table 33.1 summarizes the following discussion.…”