Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One hundred and ninety-three nephrotic children with a total of 271 admissions during the past decade, from 1980 to 1989, were retrospectively reviewed for acute complications and unusual features of nephrotic syndrome. One hundred and forty-nine patients were male, 44 female. Hypertension was found in 41 children (21.2%). Nine patients (4.7%) had a total of 11 episodes of hypovolemic shock. These shock patients had a more severe hemoconcentration (mean hemoglobin concentration 19.6 +/- 1.5 g/dl) and hyponatremia (mean serum sodium 127.5 +/- 8.5 mmole/L). Bacterial infections occurred in 28 children (14.5%) with primary peritonitis in 13, sepsis in 6, cellulitis in 4, urinary tract infection in 4 and osteomyelitis in 1. Almost all infections were caused by gram-negative bacilli. Other complications or features included tetany in 4 (2.1%), thromboembolism in 2 (1.0%), pancreatitis in one (0.5%) and Fanconi syndrome in one (0.5%).
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PMID:Complications of nephrotic syndrome in children. 168 Oct 1

Fanconi's anaemia (FA) is a hereditary disease transmitted in a recessive manner, characterized by congenital malformations and bone marrow aplasia. A high rate of chromosome breakage is observed in mitoses of cultured blood cells, but the caryotypes are normal. Forty-four patients (27 boys and 17 girls) were followed in the same department between 1962 and 1976. Most were treated with androgens, sometimes combined with corticosteroids. Nine patients died of acute granuloblastic leukaemia, with more than 25% bone marrow blasts; in three of these, cytogenetic examination showed clonal anomalies. Five patients were in preleukaemic state with non-blastic bone marrow; 4 showed clonal anomalies and 2 of these died of aplasia; the 5th patient had gross liver and spleen enlargement and died of haemorrhage. Among the 30 remaining patients 12 are still alive and 18 died of cerebral haemorrhage (7), hepatic failure (3), cardiac failure (1), pancreatitis (1), septicaemia (2) or graft-versus-host reaction after bone marrow transplantation. One patient transplanted 4 years ago has complete chimerism and is still alive without treatment. The incidence of leukaemic or preleukaemic state in this series was 30%, while no case of leukaemia was observed in 200 patients with acquired aplastic anaemia. Neither parents norsibship had leukaemia. Androgen treatment apparently did not increase the risk of leukaemia which developed within 1 to 13 years (mean = 5 years) of the diagnosis, was preceded by a 2 1/2 year long preleukaemic state with clonal chromosomal anamolies and invariably was of the granulocytic type. None of the patients developed cancer. The median survival in this series was 4 1/2 years.
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PMID:[Fanconi's anemia. Incidence of its development into leukemia]. 622 98

Valproate sodium (VPA) is a commonly used antiepileptic drug. However, various side effects, including liver dysfunction, thrombocytopenia, anorexia, hyperammonemia, and pancreatitis have been reported in association with the administration of VPA. Recently, renal Fanconi syndrome associated with VPA treatment has occasionally been reported. However, the mechanisms and detailed characteristics of this adverse effect remain unknown. We herein report three cases of Fanconi syndrome associated with VPA treatment. All of these patients were severely disabled children, who had been previously treated with multiple antiepileptic drugs, and also required tube feeding. The possible risk factors of Fanconi syndrome in these three cases were similar to those previously reported in the literature. In addition, all three patients developed Fanconi syndrome after the onset of bacterial infections. Before developing Fanconi syndrome, hypouricemia was observed in all three and an increased urinary level of beta2 microglobulin (beta2MG) was also noted in one of the patients. None of these patients had hypophosphatemia. Two patients had an appropriate serum VPA level, while the other had an inappropriately high level. We therefore recommend that severely disabled children receiving multiple antiepileptic drugs and tube feeding be periodically checked for urinary beta2MG and uric acid, especially during the course of any infectious episodes.
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PMID:[Three cases of Fanconi syndrome associated with valproate sodium treatment]. 2163 10

Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, short stature, sensorineural hearing loss, retinitis pigmentosa, and chronic gastrointestinal dysmotility) that progressed to acute deterioration with pancreatitis, Fanconi syndrome, lactic acidosis, and acute encephalopathy. Following treatment, the patient was stabilized and his neurological condition improved. Through a combination of histological examinations and biochemical and molecular analyses, mitochondrial disease was confirmed. A novel 3670-base pair deletion (deletion of mtDNA nt 7,628-11,297) was identified in the muscle tissue. A direct repeat of CTACT at the breakpoints was also detected.
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PMID:A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child. 2296 85