Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Little is known about oxaluria-associated neuropathy, and no effective treatments have been described. We report two patients with clinically severe and progressive sensorimotor polyneuropathy associated with oxaluria. Electrodiagnostic testing and sural nerve histopathology revealed evidence of severe axon loss and demyelination. In addition, birefringent crystalline deposits were identified within endoneurial and perineurial blood vessel walls, axon cylinders, and perimysial blood vessel walls. Electron probe microscopy confirmed that calcium (consistent with calcium oxalate) was a major constituent of the crystals. Both patients had substantial improvement in neuropathic signs and symptoms after kidney and liver transplantations despite no prior improvement with hemodialysis. Our results confirm previous reports of a mixed axonal and demyelinating neuropathy with calcium oxalate deposition in association with oxaluria. In addition, our findings suggest that renal and liver transplantation may be potential treatments for the associated neuropathy.
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PMID:Neuropathy associated with hyperoxaluria: improvement after combined renal and liver transplantations. 954 83

Domino liver transplantation (DLT) has emerged as a strategy for increasing the number of liver grafts available: morphologically normal livers from donors with metabolic diseases can be used for select recipients with hepatocellular carcinoma (usually outside the Milan criteria). Familial amyloidotic polyneuropathy (FAP) is the most common indication for DLT. When FAP patients are involved in DLT, the indications and outcomes are clear and good, although de novo FAP development within various periods of time has been described in DLT recipients of FAP livers. With the increasing need for organs, livers explanted from patients with rare metabolic diseases, such as primary hyperoxaluria (PH), acute intermittent porphyria (AIP), maple syrup urine disease (MSUD), and homozygous familial hypercholesterolemia (HFHC), are being used for DLT. However, insufficient data about the use of livers from patients with these rare metabolic diseases are available. In this review, we focus on the latter disorders. PH is not a good indication for DLT because recipients of PH livers develop hyperoxaluria and early acute renal failure. AIP also seems to be a debatable indication for DLT because of the rapid development of neurotoxicity in AIP liver recipients. However, the outcomes of DLT with HFHC and MSUD liver grafts (which include the risk of the de novo development of these genetic diseases) are promising. For rare metabolic liver diseases to be established as indications for DLT, more reports and studies are needed.
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PMID:Domino liver transplantation: how far can we push the paradigm? 2198 15

Liver transplantation (LT) activity started in Spain in 1984 and has exceeded 23,700 interventions, with more than 1000 transplants performed yearly. Every hospital needs official authorization to perform a LT, which implies the obligation to register all patients on the national waiting list. The Spanish National Transplant Organization (ONT) provides essential support for organ procurement, allocation, and management of the waiting list at a national level. Liver allocation is center-oriented as all available organs are referred to the ONT for the whole country. The allocation rules for LT are made according to disease severity after consensus among professionals from every transplant center and ratified by representatives of the regional health authorities. Authorization and location/distribution of transplant centers are regulated by the country (Spain) and by the different regions according to the Real Decreto 1723/2012. For a total population of 47,850,795 inhabitants, there are 24 centers for LT for adults (1 team/2 million people) and 5 for LT for children (1 team/9.5 million people). Nonbiliary cirrhosis, particularly alcohol- and hepatitis C virus-related cirrhosis (60%), and tumors, mainly hepatocellular carcinoma (19%), are the most common indications for LT in Spain. Unusual causes of LT include metabolic diseases like Wilson's disease, familial amyloid polyneuropathy and hyperoxaluria type I, polycystic kidney and liver disease, and some tumors (epithelioid hemangioendothelioma and neuroendocrine tumors). Important efforts are now being undertaken to improve the quality and transplantability of extended criteria livers, in particular those arising from DCD, which represent the greatest opportunity to expand the donor pool. These efforts have to be addressed to adapt the organ preservation procedures, be it through the application of regional perfusion in situ or the use of machine perfusion preservation ex situ. Liver Transplantation 22 1259-1264 2016 AASLD.
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PMID:Liver transplantation in Spain. 2719 47