Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
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Herein we describe the case of a 64-year-old woman with hypoparathyroidism diagnosed at the age of 40, after an acute episode of tetany and seizures due to severe hypocalcemia. She was treated for more than 20 years with calcitriol and calcium supplementation but she presented with marked hypercalciuria and recently nephrolithiasis, although serum calcium was maintained at levels below normal range. Provided that any attempt to increase the recommended dose of calcitriol was leading to an exacerbation of hypercalciuria, we decided to enroll an alternative tool in the treatment strategy. In order to avoid further deterioration of renal function she was administered once-daily a subcutaneous (sc) injection of synthetic human parathyroid hormone (PTH 1-34) while doses of calcium and calcitriol were gradually decreased depending on the response of calcium metabolism in serum and urine samples taken periodically. Within two months of administration, PTH (1-34) significantly reduced the level of urine calcium excretion compared with calcitriol therapy and maintained serum calcium in the normal range. The relevant literature is reviewed in light of this alternative therapeutic approach in long-standing hypoparathyroidism, illustrating the potential benefits and the unresolved issues in parathyroid hormone replacement.
Exp Clin Endocrinol Diabetes 2007 Jan
PMID:Sporadic hypoparathyroidism treated with teriparatide: a case report and literature review. 1728 36

The total number of patients active on the transplant waiting list (adult and paediatric) on 31 December 2005 was 5736, an 8% increase from the previous year. On 31 December 2005, 45.7% of prevalent adult RRT patients in the UK, had a functioning renal transplant which equated to 19,074 patients. During 2005, the death rate in prevalent transplant patients was 2.7 per 100 patient years. An additional 3.1% of all prevalent transplants failed with patients returning to dialysis. During 2005, deceased heart beating donor numbers decreased by 18% compared to 2004. In comparison, non-heart beating donors and living kidney donors increased by 35% and 17%, respectively, in 2005. The proportion of renal transplants performed from deceased heart beating donors fell from 68% in 2004 to 60% in 2005. There is wide variation in prevalence per million population (pmp) of transplanted patients resident in each local authority area across the United Kingdom. Total 11.4% of incident transplants in 2005 were due to patients with diabetes. The median eGFR was 46.1 ml/min/1.73 m(2), with 18% of prevalent transplant recipients having an eGFR <30 ml/min/1.73 m(2). The median Hb in prevalent transplant recipients was 12.9 g/dl, with 10% of patients having an Hb <10 g/dl. The median systolic and diastolic BP was 136 and 79 mmHg, respectively, with only 25% of patients within guidelines. Transplant function analysed by CKD stages 1-2 (eGFR < 60), 3 (eGFR 30-59), 4 (eGFR 15-29) and 5 (eGFR < 15), shows that these categories account for 24%, 59%, 15% and 2.5% of patients, respectively. Haemoglobin values fall with decreasing eGFR such that of the 2.5% of transplant patients with eGFR <15 ml/min, 27% had an Hb <10 g/dl and 51% <11 g/dl. Control of iPTH was poor in transplant recipients in CKD stages 4 and 5, with 22% and 50% of patients, respectively, having a PTH > 32 pmol/l (=300 ng/l). Patients with failing transplants are less likely to achieve RA targets of key biochemical variables when compared to patients on dialysis. There is still wide variability in the completeness of data returns from individual units.
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PMID:Measures of care in adult renal transplant recipients in the United Kingdom (chapter 11). 1772 42

With the aim to investigate microvascular endothelial function in chronic kidney disease (CKD) patients on conservative treatment, skin blood flowmotion (SBF) was explored by spectral Fourier analysis of skin forearm laser Doppler tracing, registered before and following forearm ischemia in 32 III to V stage CKD patients (23 males, mean age: 52+/-12 years), without diabetes or cardiovascular disease, and in 32 age and sex matched healthy subjects. The power spectral density (PSD) of the 0.009-1.6 Hz total spectrum SBF, as well as of five sub-intervals, each of them related to endothelial (0.009-0.02 Hz), sympathetic (0.02-0.06 Hz), myogenic (0.06-0.2 Hz), respiratory (0.2-0.6 Hz) or cardiac (0.6-1.6 Hz) activity, was measured in PU(2)/Hz (PU=perfusion unit; 1 PU=10 mV). Under basal conditions CKD patients and controls did not differ in skin perfusion or in PSD of total spectrum SBF, as well as of each of the five subintervals considered. No substantial difference was also observed in skin post-ischemic hyperemia between patients and controls. A significant post-ischemic increase in the normalized value of endothelial sub-interval was observed in controls (p<0.05, GLM ANOVA analysis of variance), but not in CKD patients. A lower per cent increase in absolute PSD value of endothelial sub-interval was also observed in CKD patients compared to controls (185+/-98 % vs 279+/-243 %, p<0.05). The post-ischemic per cent increase in absolute PSD of endothelial sub-interval was negatively related to the systolic blood pressure (r=-0.45, p<0.01), to the mean arterial blood pressure (r=-0.40, p<0.05) and to the PTH serum levels (r=-0.38, p<0.05) in CKD patients. The blunted post-ischemic increase of the endothelial SBF sub-interval can be considered an early sign of microvascular endothelial dysfunction in the CKD studied patients. Arterial hypertension seems to be the main factor related to this SBF abnormality, together with the hormonal CKD related abnormalities.
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PMID:Blunted post-ischemic increase of the endothelial skin blood flowmotion component as early sign of endothelial dysfunction in chronic kidney disease patients. 1793 69

Vitamin D maintains calcium homeostasis and is required for bone development and maintenance. Recent evidence has indicated an interrelationship between vitamin D and health beyond bone, including effects on cell proliferation and on the immune system. New developments in our lab related to the function and regulation of target proteins have provided novel insights into the mechanisms of vitamin D action. Studies in our lab have shown that the calcium-binding protein, calbindin, which has been reported to be a facilitator of calcium diffusion, also has an important role in protecting against apoptotic cell death in different tissues including protection against cytokine destruction of osteoblastic and pancreatic beta cells. These findings have important implications for the therapeutic intervention of many disorders including diabetes and osteoporosis. Recent studies in our laboratory of intestinal calcium absorption using calbindin-D(9k) null mutant mice as well as mice lacking the 1,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3)) inducible epithelial calcium channel, TRPV6, provide evidence for the first time of calbindin-D(9k) and TRPV6 independent regulation of active calcium absorption. Besides calbindin, the other major target of 1,25(OH)(2)D(3) in intestine and kidney is 25(OH)D(3) 24 hydroxylase (24(OH)ase), which is involved in the catabolism of 1,25(OH)(2)D(3). In our laboratory we have identified various factors that cooperate with the vitamin D receptor in regulating 24(OH)ase expression including C/EBP beta, SWI/SNF (complexes that remodel chromatin using the energy of ATP hydrolysis) and the methyltransferases, CARM1 and G9a. Evidence is also presented for C/EBP beta as a nuclear coupling factor that coordinates regulation of osteopontin by 1,25(OH)(2)D(3) and PTH. Our findings define novel mechanisms that may be of fundamental importance in understanding how 1,25(OH)(2)D(3) mediates its multiple biological effects.
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PMID:Vitamin D: molecular mechanism of action. 1808 36

Dietary reference intakes (DRIs) for Vitamin D (VitD) have been traditionally established based on plasma 25-OHD concentration sufficient to prevent rickets and osteomalacia. While nutritional rickets is still prevalent in developing countries, hypovitaminosis D is becoming widespread around the world regardless the latitude. Emerging evidence has unravelled the physiological roles of VitD beyond calcium homeostasis. Hypovitaminosis D has been linked to cancers, diabetes, CVD, periodontal diseases and influenza. Hypovitaminosis D is multifactorial and is related to VitD scarcity in foods, latitude, solar-irradiation, atmospheric-pollution, skin-pigmentation, clothing, sunscreen-use and indoor activities, etc. Plasma 25-OHD concentration range from 25-138 nmol/L. A higher plasma 25-OHD concentration is linked to higher bone-mass in adolescents, pre- and post-menopausal women. Plasma 25-OHD > or =75 nmol/L has been shown to enhance calcium absorption, suppress PTH elevation, reduce the risks of bone loss and fractures, and certain extra-skeletal diseases. VitD supplementation with 10 microg/d is insufficient to lower fracture risks. Combined VitD and calcium supplementation in higher doses has been found superior to VitD alone to increase bone-mass in adolescents and to reduce non-vertebral fractures in postmenopausal women. In future, DRIs for VitD are likely to be established beyond its skeletal roles to include multiple health outcomes. However, the desirable level of VitD has yet to be defined. Furthermore, redefining the upper-tolerable-level of VitD intake is necessary to prevent hypercalcemia and toxicity. There is also a urgent need to harmonize laboratory methods in VitD assay in different laboratories.
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PMID:The resurgence of the importance of vitamin D in bone health. 1829 22

Hemodialysis shows an increased prevalence in elderly patients, a population which often presents poor nutrition, high prevalence of cardiovascular, neurological and osteoarticular diseases and psycho-social problems. The objective of this epidemiological, cross-sectional and multicenter study, in patients older than 65 years (n 625) and >75 years (n 558) from 29 Spanish medical institutions was to perform an epidemiological analysis It included demographic information, as well as data regarding chronic renal failure, functional and psychological abilities (Katz Index, Lawton and Karnofsky Scales), dialysis logistics and clinical parameters. The study analyzed data from 1,183 patients (678 female), mean age 75.4+/-5.5 years; mean duration of dialysis 4.3+/-5.1 years (57.7% were referred by the GP: general practitioner). The most frequent etiologies were diabetic nephropathy (21.2%) and vascular renal disease (20.9%). The main comorbilites were high blood pressure (75.6%), Diabetes Mellitus (32.9%) and vascular (29.0%) and osteoarticular (27.3%) diseases. The great majority of patients lived at their family home (85.0%), travelled to their dialysis units alone (80.8%) and by ambulance (56.7%), and it took them less than an hour to arrive (87.5%). Over 75% of patients were fully functional (79.4% under 75 years and 71.6% over 75); meanwhile 10.5% were partially impaired and 13,8% severely impaired. Karnofsky performance scale scored less than 70 in 59.4% of the patients. Analytical parameters rated Hb >or= 11 g/dL for 81.7% of patients; ferritin >or= 100 ng/dL for 98.5%; PTH 150-300 pg/mL for 31.9%; albumin >3.5 g/dL for 75.6%; and serum phosphor <5.5 mg/dL for 70.6%. For the dialysis Kt/V the mean value was 1.4+/-0.3 with a mean duration of dialysis session of 11.7+/-4.0 hours/week. High permeability membranes were used in 52.3% of patients and internal arteriovenous fistula in 74.0%. Around 75% of elderly patients on hemodialysis fulfill age-suitable daily living activities and display adequate dialysis quality parameters.
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PMID:[Epidemiological study on chronic renal failure elderly patients on hemodialysis]. 1833 27

A 30-year-old normocalcemic man with hypopituitarism, hypogonadism, diabetes mellitus, and secondary hemochromatosis due to multiple blood transfusions was admitted because of adrenal crisis. After intravenous administration of saline and cortisol, the corrected serum level of calcium decreased to 7.3 mg/dl. This osteoporotic patient had been prescribed alendronate for radial bone fracture. Since the increase in intact PTH (68 pg/ml) was impaired compared to that seen in hypocalcemic patients with secondary hyperparathyroidism, we presume that the patient has had latent hypoparathyroidism, which was unmasked by the administration of glucocorticoid and bisphosphonate. With a supplemented dose of 1alpha-OHD3, the patient has been eucalcemic.
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PMID:Latent hypoparathyroidism in an osteoporotic patient with multiple endocrinopathies and secondary hemochromatosis due to multiple blood transfusions, unmasked by alendronate and glucocorticoid at adrenal crisis. 1834 38

Genetic polymorphisms may be linked to inter-individual differences in erythropoietin (EPO) resistance. We investigated the -511C/T polymorphism of the IL-1B gene and the I/D polymorphism of the ACE gene for any association with EPO resistance index (ERI) in maintenance hemodialysis patients (n=167). Because EPO responsiveness is multi-factorial, we also included other possible influences (age, sex, time on dialysis, ACE inhibitor or angiotensin receptor blocker use, ferritin, transferrin saturation, intact PTH, high sensitivity C-reactive protein, albumin, Kt/V, and presence of diabetes mellitus) on ERI in our analyses. Multiple regression analysis showed significant association of the IL-1B-511CC and ACE DD polymorphisms with ERI (P=0.038 and P=0.004 in the recessive model, respectively). The combination (C) of alleles of two loci showed that C1 (I-T) was significantly associated with ERI in the co-dominant and recessive models (P=0.005 and P=0.0001, respectively). Subjects who did not carry C1 showed significantly decreased ERI (10.10+/-5.15 IU/kg weight/g hemoglobin) compared to other study subjects (C1/C1 and C1/-; 12.97+/-4.90 and 15.12+/-7.43 IU/kg weight/g hemoglobin, respectively). Our study indicates that the IL-1B-511C/T and ACE I/D polymorphisms may be useful genetic markers of EPO requirement in hemodialysis patients. These findings might also provide a new perspective on therapeutic approaches to the treatment of end stage renal disease patients with anemia.
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PMID:Polymorphisms in two genes, IL-1B and ACE, are associated with erythropoietin resistance in Korean patients on maintenance hemodialysis. 1844 54

Secondary hyperparathyroidism (SHPTH) can develop early in the course of chronic renal failure and becomes more prominent as kidney function declines. We studied the effect of diabetes, age, and dialysis on parathyroid function in 60 (21 women, 39 males; 44 non-diabetic, 16 diabetic) hemodialysis (HD) patients. Serum intact PTH (iPTH), calcium, phosphorus, alkaline phosphatase (ALP), and magnesium (Mg) were measured. Adequacy of HD was evaluated by calculating the urea reduction rate (URR). There were significantly lower values of serum iPTH, ALP, and dialysis adequacy among diabetic than non-diabetes HD patients. In addition, there were an inverse correlation of age and serum iPTH (r= -0.27, p=0.034) as well as age and serum phosphorus (r= -0.28, p=0.031). There was also a positive correlation between serum iPTH with the duration (r=0.001, p=0.42) and doses of dialysis treatment (r=0.38, p=0.002). We conclude that a significant negative correlation between age and serum phosphorus and lower parathyroid activity in diabetic HD patients, which implies more prevalence of bone disease in elderly diabetic HD patients. Further study of bone disease in this group of patients is required to evaluate its effect on outcome and different therapeutic interventions.
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PMID:Effects of diabetes mellitus, age, and duration of dialysis on parathormone in chronic hemodialysis patients. 1858 21

Autoimmune hypercalcemia has been reported in only a few cases, and never in the context of autoimmune polyglandular syndrome. A patient with type 1, insulin-dependent diabetes mellitus, Graves' disease, and antiparietal cell antibodies presented with persistent hypercalcemia with inappropriate PTH secretion. Other causes of hypercalcemia were excluded. In this context of two associated organ-specific autoimmune diseases we searched for autoantibodies directed to parathyroid tissue and to calcium-sensing receptor. Anti-parathyroid autoantibodies were detected by indirect immunofluorescence on parathyroid adenomas, and autoantibody against a peptide of the extracellular domain of the calcium-sensing receptor were detected by immunoblotting. Autoimmune hypercalcemia may be another organ-specific feature of autoimmune polyglandular syndrome.
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PMID:Hyperparathyroidism in a patient with autoimmune polyglandular syndrome. 1898 36


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