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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with idiopathic Fanconi syndrome and glucose intolerance were studied from a metabolic perspective. They had fasting hyperglycemia, massive glucosuria, insulinopenia, ketosis, and elevated serum free fatty acids. There was a markedly blunted insulin secretory response to glucagon, tolbutamide, glucose, and arginine. One patient had the findings of diabetic retinopathy and a sensory neuropathy. Neither patient could convert galactose to glucose, but they did not have galactosemia. As a result of these studies, and previous reports in which similar changes were noted, we conclude that diabetes mellitus may occur in patients who have had idiopathic Fanconi syndrome for many years.
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PMID:Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients. 701 70

We report a patient with a clinical picture consisting of small birth weight, connatal hypoplastic anaemia, vacuolised bone marrow precursors, failure to thrive, and, subsequently, by insulin-dependent diabetes, renal Fanconi syndrome, lactic acidosis, complex organic aciduria, and elevation of haemoglobin F and of adenosine deaminase activity. The clinical course was progressive and death occurred at age 19 months. A high proportion of mitochondrial (mt) DNA molecules with a deletion of nucleotides 9238 to 15575 were identified in several tissues; about half of the shortened mtDNA molecules were concatenated to form circular dimers. The clinical and laboratory findings support recent conclusions that Pearson syndrome is not confined to bone marrow and pancreas, as originally described, but is a multi-organ disorder associated with deletions in part of the mtDNA molecules. The tissue distribution and the relative proportions of the abnormal mtDNA molecules apparently determine the phenotype and clinical course.
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PMID:Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA. 768 Mar 15

The author presents and discusses the anaesthetic care of a 12-yr-old boy with cystinosis. Cystinosis is a recessively inherited disorder of amino acid metabolism resulting in the abnormal intracellular accumulation of cystine. Anaesthetic care may be affected by variable end-organ involvement, most notably progressive renal deterioration beginning with the development of Fanconi syndrome and progressing to overt renal failure during the first decade of life. Additional organ system involvement may lead to cirrhosis with portal hypertension, diabetes mellitus, and hypothyroidism. Identification of the extent of end-organ involvement during the preoperative evaluation will help in the provision of safe anaesthetic care for such patients.
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PMID:Anaesthetic implications of cystinosis. 840 16

PCR primers specific to the human liver fructose-1,6-bisphosphatase (FBP) gene were designed and used to isolate a cosmid clone. Physical mapping of the FBP cosmid by FISH, and genetic mapping of an associated GA repeat polymorphism (PIC = 0.35), located the liver FBP gene to chromosome 9q22.3 with no recombination between FBP and the index markers D9S196 (Zmax = 13.2), D9S280 (Zmax = 11.7), D9S287 (Zmax = 15.6), and D9S176 (Zmax = 14.4). Amplification using FBP exon-specific primers with a YAC contig from this region of chromosome 9 further refined the placement of FBP genomic sequences to an approximately 1.7-cM region flanked by D9S280 and D9S287, near the gene for Fanconi anemia group C. Precise localization of the FBP gene enabled evaluation of FBP as a candidate gene for maturity-onset diabetes of the young (MODY) and non-insulin-dependent diabetes (NIDDM) in both Caucasian and African-American families, using the highly informative markers D9S287 and D9S176. Although FBP is a rate-limiting enzyme in gluconeogenesis, using both parametric and nonparametric analysis there was no evidence for linkage of FBP to diabetes in these families.
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PMID:Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus. 853 70

We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: microcephaly, short stature, congenital deafness, and the clinical findings in her deceased brother. Hematologic or other signs of malignancy were absent. The diagnosis was confirmed by demonstrating hypersensitivity of her lymphocytes to mitomycin C (MMC). Cell fusion experiments indicated that the patient belongs to complementation group A. The patient's brother died at the age of 50 of heart and renal failure, and anemia. He had clinical findings similar to those of his sister, and a horseshoe kidney. From 31 years on he had thrombocytopenia and leucopenia. Both patients had insulin-dependent diabetes mellitus. A chromosomal breakage test carried out elsewhere before his death failed to demonstrate MMC hypersensitivity of his lymphocytes, which led to the investigation of his sister. To our knowledge these two cases are the oldest Fanconi anemia patients reported thus far.
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PMID:An atypical case of Fanconi anemia in elderly sibs. 902 73

We have studied a 38-year-old man with a prior diagnosis of Holt-Oram syndrome, who presented with diabetes mellitus. He had recently taken prednisone for idiopathic interstitial lung disease and trimethoprim-sulfamethoxazole for sinusitis. Thrombocytopenia progressed to pancytopenia. The patient had skeletal, cardiac, renal, cutaneous, endocrine, hepatic, neurologic, and hematologic manifestations of Fanconi anemia (FA). Chest radiographs showed increased interstitial markings at age 25, dyspnea began in his late 20s, and he stopped smoking at age 32. At age 38, computerized tomography showed bilateral upper lobe fibrosis, lower lobe honeycombing, and bronchiectasis. Pulmonary function tests, compromised at age 29, showed a moderately severe obstructive and restrictive pattern by age 38. Serum alpha-1 antitrypsin level was 224 (normal 85-213) mg/dL and PI phenotype was M1. Karyotype was 46,XY with a marked increase in chromosome aberrations induced in vitro by diepoxybutane. The early onset and degree of pulmonary disease in this patient cannot be fully explained by environmental or known genetic causes. The International Fanconi Anemia Registry (IFAR) contains no example of a similar pulmonary presentation. Gene-environment (ecogenetic) interactions in FA seem evident in the final phenotype. The pathogenic mechanism of lung involvement in FA may relate to oxidative injury and cytokine anomalies.
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PMID:Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis. 909 63

A case of renal glycosuria is reported. A 55 year old female was diagnosed and treated in an upcountry hospital for diabetes mellitus. She developed symptoms of hypoglycaemia while on an oral hypoglycaemic agent, leading to her admission in Mulago Hospital. Persistent glycosuria was noted despite treatment and normal serum glucose. Oral glucose tolerance test and timed urine glucose showed a normal curve but high urine sugar. A diagnosis of renal glycosuria was made, oral hypoglycaemic therapy was stopped, patient improved and was discharged. Though renal glycosuria is a benign condition, mistaken diagnosis for diabetes mellitus puts patients at risk of hypoglycaemia due to treatment. Diagnosis of the condition requires physicians' awareness of its existence in our community and the use of Marbles' criteria obviates confusion with diabetes mellitus though it does not absolutely exclude Fanconi syndrome.
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PMID:Renal glycosuria treated as diabetes mellitus: case report. 955 51

A 12-year-old girl with short stature due to idiopathic Fanconi syndrome and chronic renal failure was treated with recombinant human growth hormone (rhGH). There was no family history of diabetes mellitus and the glucose tolerance before treatment was normal. Intravenous glucose tolerance tests were performed before, during and after treatment. Two months after starting rhGH the early phase of insulin secretion (1-+3-min values) was diminished, and the patient developed manifest diabetes mellitus with hyperglycemia and an elevated hemoglobin A1c. Following discontinuation of rhGH, glucose tolerance slowly returned to normal.
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PMID:Reversible diabetes mellitus during growth hormone therapy in chronic renal failure. 968 61

Measurement of serum fructosamine, 1-amino-1-deoxyfructose, is commonly used in diagnosing and monitoring hyperglycaemic disorders, such as diabetes mellitus in dogs. Serum fructosamine indicates long-term serum glucose concentrations and replaces serial serum glucose measurements. This study investigates the clinical usefulness of serum fructosamine in differentiating conditions other than diabetes mellitus characterised by glucosuria. Four dogs presented with glucosuria all had serum fructosamine concentrations within or close to the reference range (313 micromol 1(-1), 291 micromol 1(-1), 348 micromol 1(-1), 262 micromol 1(-1) reference range: 250 to 320 micromol 1(-1) indicating that a single serum fructosamine measurement is a simple and efficient way of verifying concurrent persistent normoglycaemia. Therefore, serum fructosamine is a useful parameter not only in diabetic patients, bu also in differentiating conditions in dogs characterised by glucosuria without hyperglycaemia, such as primary renal glucosuria and the Fanconi syndrome. To distinguish between primary renal glucosuria and the Fanconi syndrome, measurement of the amino acid concentration in urine was performed.
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PMID:Serum fructosamine measurement: a new diagnostic approach to renal glucosuria in dogs. 1060 7

Recently it has been shown that dominant mutations in the human hepatocyte nuclear factor 1alpha (HNF1alpha) gene, encoding for a homeoprotein that is expressed in liver, kidney, pancreas and intestine, result in maturity onset diabetes of the young type 3 (MODY3). HNF1alpha-null mice are diabetic, but at the same time suffer from a renal Fanconi syndrome characterized by urinary glucose loss. Here we show that MODY3 patients are also characterized by a reduced tubular reabsorption of glucose. The renal murine defect is due to reduced expression of the low affinity/high capacity glucose cotransporter (SGLT2). Our results show that HNF1alpha directly controls SGLT2 gene expression. Together these data indicate that HNF1alpha plays a key role in glucose homeostasis in mammals.
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PMID:HNF1alpha controls renal glucose reabsorption in mouse and man. 1126 3


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