Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From the age of 31 a patient began to suffer from recurrent calcium oxalate urolithiasis. Liver biopsy showed a decrease in catalytic activity of the hepatic peroxisomal enzyme alanine: glyoxilate aminotransferase (AGT), which was mistargeted from peroxisomes to mitochondria. The genetic analysis revealed a mutation of the AGT gene. At age 47 he developed end-stage renal failure and underwent hemodialysis. After 12 months of hemodialysis he presented a rapidly declining clinical condition, a decrease of the residual renal function, a livedo reticularis with painful of extremities, and shortly thereafter a general weakness, which predominated on lower limbs. Apart from renal failure, routine biological examination and CSF were normal. Nerve conduction studies and electromyography supported the diagnosis of polyradiculoneuropathy. Pathological studies revealed mixed demyelinating-axonal lesions and deposits of calcium oxalate crystals within the media and the intima of epineural arterioles. A combined liver-kidney transplant was rapidly performed. The patient's condition improved in a few months and motor signs completely disappeared.
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PMID:[Polyradiculoneuropathy in an adult with primitive hyperoxaluria]. 1069 61

Primary hyperparathyroidism in children is very rare. It is caused by overproduction of parathormone by a pathologically changed parathyroid gland. We carried out a retrospective study in 10 patients (age 10-17 years) who had surgical treatment between 1996 and 2007. The main signs of primary hyperparathyroidism were urolithiasis, nephrolithiasis, nephrocalcinosis and bone resorption, as well as non-specific signs such as fatigue, torpidness and muscle weakness. Patients were examined using sonography, MIBI-scintigraphy, CT and MRI. Calcium was measured before and after surgery; parathormone was monitored postoperatively. Surgery was curative in nine patients; reoperation was necessary in one patient because an ectopic parathyroid gland was not detected during the primary operation. Other major complications were not observed. Removal of pathologically changed parathyroid glands offers definitive and safe treatment of primary hyperparathyroidism in children. Special care should be taken if an ectopic parathyroid gland is suspected.
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PMID:Surgical treatment of primary hyperparathyroidism in children: report of 10 cases. 1851 6

There are a number of newly described and emerging disease syndromes affecting the domestic ferret, and the purpose of this article is to make veterinarians aware of these diseases. A recently described systemic coronavirus infection appears to be a variant of the ferret enteric coronavirus and is currently termed "ferret infectious peritonitis." Disseminated immunopathologic myositis, aplastic anemia/bone marrow aplasia, acute hemorrhagic syndrome, and oral ulcerations are also described, although the exact etiologies for these diseases have yet to be determined. There appears to be at least 2 important amino acid metabolism deficiencies in ferrets: hindlimb weakness in older ferrets (L-carnitine) and cysteine urolithiasis. Ferrets have recently been found to be susceptible to H1N1 influenza, so knowledge regarding this zoonotic disease is essential for veterinarians working with these animals. A novel Mycoplasma spp. has also recently been identified in ferrets with chronic respiratory problems that originated from one breeding colony. Because these diseases are still being investigated, practitioners who treat a ferret patient exhibiting clinical signs consistent with any of the conditions mentioned are encouraged to contact people who are knowledgeable of that particular illness.
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PMID:Emerging Ferret Diseases. 3228 74