Primary hyperoxaluria type 1: practical and ethical issues.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH 1 ) is a rare inborn error of glyoxylate metabolism of autosomal recessive inheritance , leading to progressive systemic oxalate storage (named 'oxalosis ') with a high rate of morbidity and mortality , as well as an unacceptable quality of life for most patients . The adverse outcome , however , is partly due to issues that can be overcome . First , the diagnosis of PH is often delayed due to a general lack of knowledge of the disease among physicians . This accounts specifically for patients with pyridoxine sensitive PH , a group that is paradoxically most easy to treat . Second , lack of adherence to a strict conduction of conservative treatment and optimal urological management may enhance an adverse outcome of the disease . Third , specific techniques to establish PH 1 and specific therapies are currently often not available in several low -resources countries with a high prevalence of PH . The management of patients with advanced disease is extremely difficult and warrants a tailor-made approach in most cases . Comprehensive programs for education of local physicians , installation of national centers of expertise , European support of low -resources countries for the management of PH patients and intensified international collaboration on the management of current patients , as well as on conduction of clinical studies , may further improve outcome of PH .

Diseases
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Diseases presenting "lack of knowledge of the disease" symptom

primary hyperoxaluria type 1

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