Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We prospectively evaluated 30 patients who presented with active systemic lupus erythematosus (SLE) for the presence of tubular abnormalities. All patients fulfilled the American Rheumatology Association criteria for SLE. When appropriate, a renal biopsy was performed. Of the 30 patients studied, 12 had no abnormal tubular study results, whereas 18 patients had some form of defect in the handling of potassium, sodium, or hydrogen ions. Eight patients had distal renal tubular acidosis (dRTA) due to an isolated proton secretory defect. Five had dRTA of the gradient or acid back-leak type. Two had an unresponsive voltage-dependent form of dRTA; one had a responsive voltage-dependent form of dRTA. One individual had hyporeninemic hypoaldosteronism and one had dRTA plus hypoaldosteronism. Clinically, patients with the abnormal tubular study results more often presented with nephritis or nephrotic sediment, peripheral edema, or anemia. Renal biopsies failed to demonstrate any difference in glomerular histologic findings and calculated activity, chronicity, or interstitial indexes. We conclude that SLE may be associated with a variety of tubular defects.
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PMID:Occurrence of renal tubular dysfunction in lupus nephritis. 303 79

We report on a male infant with congenital hypoparathyroidism who developed primary hypothyroidism at 3 months and insulin-dependent diabetes mellitus at 25 months. He had evidence of widespread and progressive neurologic dysfunction characterized by severe developmental delay, blindness, deafness, seizures, atrophy of the cerebellar and frontal lobes, and elevated spinal fluid protein. Also noted were renal hypoplasia, hyporeninemic hypoaldosteronism, chronic anemia, persistent elevation of liver transaminase levels, abnormal intraventricular cardiac conduction, reduction in numbers of helper T-cells, and distinctive facial anomalies. The child died of multiorgan failure at 29 months. A mitochondrial basis for the syndrome was considered but a molecular mechanism has, as yet, not been identified.
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PMID:Multiple endocrinopathies in an infant with fatal neurodegenerative disease. 909 56

The association of anemia and hyporeninemic hypoaldosteronism (HRHA) in type 1 diabetes has been described, and erythropoietin deficiency has been proposed as the cause. Subjects with type 1 diabetes with (n = 8) and without HRHA (n = 11) were studied, as were subjects taking angiotensin-converting enzyme inhibitors (ACEIs; n = 10). Renal function and sodium excretion were estimated with a 24-hour urine collection. Values for hemoglobin, hematocrit, serum erythropoietin, and red blood cell volume were determined. HRHA subjects were anemic (hemoglobin, 99 +/- 8 g/L ), and ACEI subjects had lower hemoglobin concentrations (120 +/- 4 g/L) compared with controls (134 +/- 3 g/L; P < 0.001 and P = 0.01, respectively). Also, the red cell mass in patients with HRHA was significantly less than that in controls (14.8 +/- 1.4 v 20.8 +/- 1.1 mL/kg; P = 0.004), indicating that the lower hemoglobin level in HRHA is not attributable to an expansion of extracellular volume. Erythropoietin levels in the HRHA (27% +/- 11% of predicted) and ACEI groups (43% +/- 9% of predicted) were low compared with controls (94% +/- 13% of predicted; P = 0.001 and P = 0.005, respectively). Renal function was greater than the levels at which anemia becomes a clinical feature in all groups, but creatinine clearance was less in the HRHA (63 +/- 12 mL/min/1.73 m2) and ACEI groups (76 +/- 11 mL/min/1.73 m2) compared with controls (123 +/- 9 mL/min/1.73 m2; P < 0.001 and P = 0.004, respectively). The fractional sodium reabsorption was decreased in HRHA (98.7% +/- 0.3%) and ACEI groups (98.7% +/- 0.3%) versus controls (99.4% +/- 0.1%; P = 0.007 and P = 0.01, respectively). Subjects with type 1 diabetes with HRHA had low hemoglobin concentrations that were caused, at least in part, by inappropriately low serum erythropoietin levels.
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PMID:Erythropoietin deficiency in hyporeninemia. 1021 54

A cohort of 40 male children with Posterior Urethral Valves (PUV) seen in the Paediatric Nephrology/Urology Unit of the University College Hospital, Ibadan are presented. They were reviewed with the aim of determining the clinical course of the disease in a developing country where the facilities for active intervention are not always available. Even though 50% of the patients became symptomatic in the first week of life only 22.5% presented in the whole of the neonatal period. Thirty-seven and a half per-cent (37.5%) presented in the post-neonatal infancy period and the rest beond the first year of life. The interval between the onset of symptoms and definitive therapy was up to three years in some patients. Only 2 patients had antenatal diagnosis of the PUV by ultrasonography. The major renal complications were: (1) Urinary Tract Infections in 40%; (2) Acute Renal failure--10%; (3) Chronic Renal failure--7%; 4) Type IV Renal Tubular Acidosis--10% (5) Sustained hypertension--4.8%. The extra-renal complications were anaemia (30%), malnutrition (10%). Five of the patients died giving a case fatality rate of 12.5%, mainly from overwhelming infections and renal failure. Many of our patients had delayed presentation even though symptomatic and that may partly explain the complications and the poor outcome seen in the short term.
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PMID:A review of cases of posterior urethral valves seen at the University College Hospital, Ibadan (Nigeria). 1636 68