ASSESSMENT OF RENAL FUNCTION The serum creatinine concentration should be used to estimate the creatinine clearance or GFR (eGFR), which can be accomplished using the Cockcroft-Gault formula or the modification…
TREATMENT The treatment of cystinosis can be divided into symptomatic and pathophysiologic management. Symptomatic management addresses the numerous complications of cystine accumulation in different organ systems. The major early complication…
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PRESENTATION AND DIAGNOSIS Most patients begin to experience some of the previous symptoms during childhood. The diagnosis of Fabry disease should be suspected in the setting of a positive family…
PROGNOSIS After the initial episode resolves, about one third experience bouts of disease recurrence, which are usually mild and occur during the first several months after presentation. Patients should thus…
PRESENTATION AND DIAGNOSIS The major features include palpable, nonblanching purpura (often on the lower extremities), nonerosive oligoarthritis, renal disease, and gastrointestinal disease. Most patients, however, do not exhibit all four…
PRESENTATION AND DIAGNOSIS In most cases, preeclampsia is detected during routine blood pressure screening and urine dipstick. Because of primary renal retention of salt and water, patients may have edema…
PROGNOSIS Preeclampsia typically resolves within several days postpartum, but symptoms can sometimes persist for weeks or more. Patients should be carefully monitored for the duration of their postpartum hospitalization and…
PATHOPHYSIOLOGY Despite intense research, the pathogenesis of pre-eclampsia remains poorly understood. Current evidence, however, suggests there is abnormal remodeling of the uterine spiral arteries, and that the resulting placental ischemia…
In this manner, the constant generation of carbon dioxide could lead to a significant acid load. Because carbon dioxide is a volatile gas, however, it can be excreted from the…
