Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 58 year old woman presented with unilateral visual loss due to ischaemic optic neuropathy. Investigations revealed severe hypercalcaemia due to hyperparathyroidism. Excision of a large parathyroid adenoma restored normocalcaemia. Visual acuity was unchanged. There was no evidence of any condition known to be associated with ischaemic optic neuropathy, or of any abnormal clotting tendency. The association between primary hyperparathyroidism and ischaemic optic neuropathy may be causal and related to vascular damage mediated by hypercalcaemia.
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PMID:Primary hyperparathyroidism presenting as unilateral visual loss. 185 69

Renal failure is relatively common, but except in association with spina bifida or paraplegia it is unlikely to occur as a result of disease of the CNS. Renal failure, however, commonly affects the nervous system. The effects of kidney failure on the nervous system are more pronounced when failure is acute. In addition to the important problems related to renal failure there are both acquired and genetically determined diseases which may affect the kidney and the brain. Those acquired diseases include the vasculitides, the paraproteinaemias, and various granulomatous conditions (considered in other chapters of Neurology and Medicine). In two of the most commonly encountered genetically determined diseases, Von Hippel-Lindau disease and polycystic kidney disease, location of pathogenic mutations will provide improved screening programmes and, possibly, allow therapeutic intervention. Uraemia may affect both the central and peripheral nervous systems. Whereas the clinical features of uraemia are well documented, the pathophysiology is less well understood and probably multifactorial. Uraemic encephalopathy, which classically fluctuates, is associated with problems in cognition and memory and may progress to delirium, convulsions, and coma. The encephalopathy may initially worsen with periods of dialysis and almost certainly relates to altered metabolic states in association with ionic changes and possibly impaired synaptic function. Renal failure may affect the peripheral nervous system, resulting in a neuropathy which shows a predilection for large diameter axons. This may be reversed by dialysis and transplantation. The myopathy seen in renal failure, often associated with bone pain and tenderness, is similar to that encountered in primary hyperparathyroidism and osteomalacia. Dialysis itself is associated with neurological syndromes including the dysequilibrium syndrome, subdural haematoma, and Wernicke's encephalopathy. Dialysis dementia, which was prevalent during the 1970s, has reduced in frequency with the use of aluminium free dialysate. With the introduction of transplantation and the concomitant use of powerful immunosuppressive drugs, the pattern of neurological problems encountered in renal replacement therapy has shifted. Five per cent of patients develop nerve injuries during renal transplantation, and up to 40% of patients experience neurological side effects from cyclosporine. Furthermore, CNS infections, often fungal in type, have been reported in up to 45% of transplant patients coming to postmortem. The nature of the involvement of neurologists with their nephrology colleagues is therefore evolving.
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PMID:Neurology and the kidney. 985 55

Endocrine diseases may present with musculoskeletal complaints, and their outcome, even after endocrine control, can be impaired by bone and joint disorders. All musculoskeletal structures, including bone, cartilage, synovium, tendons and ligaments, can be involved by some processes triggered by the endocrine disorder and its related disturbances of homeostasis, including that of growth factors. Endocrine disorders may account for 20-30% of all cases of osteopenia or osteoporosis in adults, the main causes being central and peripheral hypogonadism, endogenous and exogenous hypercorticism or hyperthyroidism, and primary hyperparathyroidism. The physician should be aware of these identifiable and treatable causes of bone loss when interpreting bone mineral density measurements. It is also valuable to evaluate bone status in patients diagnosed with these endocrine disorders. Specific bone therapeutic measures could be discussed. Other frequent musculoskeletal features include myopathy and joint and soft tissue involvement. Endocrine myopathy is frequent in most of the endocrine disorders and is non-specific since proximal painless muscle weakness associated with normal serum enzyme levels and an uncommonly encountered electromyogram myopathic pattern are present in these diseases. Soft tissue involvement is also a frequent consequence of acromegaly, hypothyroidism and diabetes mellitus. There is also a risk of nerve entrapment syndromes in these conditions. Specific arthropathies are the hallmark of acromegaly at the spinal and peripheral joints. Neuroarthropathies are a severe complication of diabetes mellitus as a result of infection, neuropathy and vasculopathy. In all these settings, the physician should be aware that endocrine disorders are part of the differential diagnosis and, conversely, that these articular and peri-articular lesions should be managed independently of the control of the underlying endocrine condition, a specific outcome being borne in mind.
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PMID:Osteoarticular disorders of endocrine origin. 1092 44

Hypoglycemia is a well recognized cause of acute symptomatic seizures. The fact that hypoglycemia can cause peripheral neuropathy is less appreciated. We describe a case of insulinoma associated peripheral neuropathy. A 17 year-old previously healthy man was referred for investigation of refractory epilepsy. A history of recurrent seizures, slowly progressive weakness of his feet and hands, and weight gain was obtained. Physical examination showed signs of a chronic sensory-motor polyneuropathy. He was diagnosed with insulinoma and primary hyperparathyroidism, characterizing multiple endocrine neoplasia, type 1 syndrome. Cases of insulinoma associated peripheral neuropathy are very rare. The more characteristic clinical picture appears to be distal weakness, worse in the intrinsic hand and feet muscles, and no or mild sensory signs. Peripheral nervous system symptoms may not completely resolve, despite removal of the cause of hyperinsulinism/hypoglycemia and full reversion of central nervous system symptoms. Mechanisms underlying hypoglycemic neuropathy are still poorly understood.
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PMID:Multiple endocrine neoplasia type 1 presenting as refractory epilepsy and polyneuropathy--a case report. 2213 26