Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Erythroblastic islands are distinct anatomical units allowing direct transfer of ferritin molecule into developing erythroblasts. A patient with Fanconi's anemia who developed acute erythroleukemia and hypotransferrinemia exhibited numerous erythroblastic islands in the bone marrow. This unusual finding in our patient is thought to be in response to an increased demand for iron caused by neoplastic erythropoietic proliferation in the absence of an adequate amount of transferrin.
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PMID:Erythroblastic islands in erythroleukemia. 694 15

Renal Fanconi syndrome developed rapidly in a 3-year-old Moroccan girl with established lysinuric protein intolerance. She was hospitalized because of lowered consciousness, uncoordinated movements and hepatosplenomegaly after a febrile period. Laboratory investigations revealed plasma ammonia 270 micromol/L (normal <70 micromol/L), ferritin 159 micromol/L (normal 2-59 micromol/L), LDH 1180 U/L (normal 26-534 U/L). LPI was diagnosed based on the findings of reduced plasma ornithine, arginine and lysine, and an increased level of glutamine. Urinary orotic acid (645 micromol/mmol creatinine; normal <3.6) was strongly increased. A defect in the SLC7A7 amino acid transporter was established (homozygous c.726G > A mutation). Detailed renal function tests including an acid challenge test, bicarbonate loading, and tubular maximal reabsorption of glucose showed complex tubular dysfunction. No evidence of respiratory chain defects was found in muscle or kidney tissue. No morphological abnormalities were demonstrated in the mitochondria. Ultrastructural analysis of proximal tubular cells showed vacuolization and sloughing of the apical brush border (Fig. 1). Renal involvement in LPI has only been described in a few reports; however, no detailed studies of the renal acidification mechanism were performed. Our patient had evidence of a full-blown Fanconi syndrome. Surprisingly, a metabolic acidosis was found with a moderately increased serum anion gap combined with repeatedly normal plasma organic acid values. This finding is in contrast with the diagnosis of renal tubular acidosis. Patients with hyperlysinaemia have a similar heavy load on the renal tubules; they never develop a renal Fanconi syndrome. Therefore, we consider the intratubular accumulation of lysine an unlikely candidate for the development of the renal Fanconi syndrome.
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PMID:Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. 1753 Apr 37

Fanconi syndrome and chronic kidney disease associated with paroxysmal nocturnal hemoglobinuria is rarely reported. We describe a 51-year-old woman with glomerular filtration rate decrease and hypokalemia, glucosuria, and proteinuria during a 4-year period. Paroxysmal nocturnal hemoglobinuria was diagnosed 17 years earlier, and she has received multiple blood transfusions because of hemolytic episodes during the last 5 years. Deteriorating kidney function and persistent Fanconi syndrome were accompanied by a progressive increase in serum ferritin levels. Laboratory studies showed proximal renal tubular acidosis, hypophosphotemic hyperphosphaturia, normoglycemic glucosuria, and aminoaciduria. Serologic testing, tumor markers, Bence-Jones protein, and heavy-metal screening results were negative. Abdominal magnetic resonance imaging showed characteristic features of iron deposition in the bilateral renal cortices. Kidney biopsy showed chronic interstitial nephritis with prominent hemosiderin deposition in the proximal tubules. With potassium citrate, calcitriol, and deferoxamine therapy, Fanconi syndrome persisted, but kidney function was stable. Renal hemosiderosis secondary to both chronic repetitive hemolytic episodes and transfusion-related iron overload in patients with paroxysmal nocturnal hemoglobinuria can lead to Fanconi syndrome and chronic kidney disease.
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PMID:Fanconi syndrome and CKD in a patient with paroxysmal nocturnal hemoglobinuria and hemosiderosis. 1983 23

Deferasirox is a new oral iron chelator. It is the first oral iron chelator approved in USA by FDA for transfusion-dependent patients above 2 years suffering from severe chronic iron overload. It is also recommended as the initial therapy for patients over the age of 6 years who are suffering from beta-thalassaemia. The clinical study is developing in China. This review focuses the related studies and the latest progression about deferasirox. The phase II and III clinical trials and pharmacokinetics indicated that deferasirox is a safety and effective oral iron chelator, can significantly decrease the myocardial and hepatic iron load, also is easy to accept for patients. The common adverse reactions are gastrointestinal symptom and rash. But it was recently reported that deferasirox has some rare adverse events to which we must attach importance, especially for the special people. Besides the patients with chronic iron overload resulting from blood transfusions (transfusional hemosiderosis), the drug is also used for the patients who has accepted auto-SCT or suffered from reversible renal inadequacy caused by Fanconi syndrome. The standard dosage is not useful to every patient. The clinician should adjust dosage based on the patient's condition and related indexes. The serum ferritin is not one and reliable index to monitoring the effect and adjust the dosage. Otherwise, this review recommends some new characters of deferasirox, e.g. anti-fungus, anti-cell proliferation and so on.
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PMID:[Deferasirox--a new oral iron chelator--review]. 2112 94

This case report details a unique case of acute, reversible liver failure in a 12-year-old male with sickle cell anemia on chronic transfusion protocol and deferasirox chelation. There is substantial literature documenting deferasirox-induced renal injury, including Fanconi syndrome, but less documentation of hepatic toxicity and few reports of hepatic failure. The case highlights the importance of close monitoring of ferritin, bilirubin, and transaminases for patients on deferasirox.
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PMID:Acute Liver Failure During Deferasirox Chelation: A Toxicity Worth Considering. 2822 Dec 65