Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.24.11 (CD10)
 9,792 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1937, Fuller Albright first described two rare genetic disorders: Vitamin D resistant rickets and polyostotic fibrous dysplasia, now respectively known as X-linked hypophosphatemic rickets (XLH) and the McCune-Albright syndrome. Albright carefully characterized and meticulously analyzed one patient, W.M., with vitamin D-resistant rickets. Albright subsequently reported additional carefully performed balance studies on W.M. In this review, which evaluates the journey from the initial description of vitamin D-resistant rickets (XLH) to the regulation of renal phosphate transport, we (1) trace the timeline of important discoveries in unraveling the pathophysiology of XLH, (2) cite the recognized abnormalities in mineral metabolism in XLH, (3) evaluate factors that may affect parathyroid hormone values in XLH, (4) assess the potential interactions between the phosphate-regulating gene with homology to endopeptidase on the X chromosome and fibroblast growth factor 23 (FGF23) and their resultant effects on renal phosphate transport and vitamin D metabolism, (5) analyze the complex interplay between FGF23 and the factors that regulate FGF23, and (6) discuss the genetic and acquired disorders of hypophosphatemia and hyperphosphatemia in which FGF23 plays a role. Although Albright could not measure parathyroid hormone, he concluded on the basis of his studies that showed calcemic resistance to parathyroid extract in W.M. that hyperparathyroidism was present. Using a conceptual approach, we suggest that a defect in the skeletal response to parathyroid hormone contributes to hyperparathyroidism in XLH. Finally, at the end of the review, abnormalities in renal phosphate transport that are sometimes found in patients with polyostotic fibrous dysplasia are discussed.
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PMID:The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. 1980 23

Tumor lysis syndrome (TLS) is the phenomenon of metabolic derangements that typically follows the initiation of cytotoxic chemotherapy. Metabolic disturbances include hyperphosphatemia, hyperkalemia, hyperuricemia and hypocalcemia. Hematological malignancies are associated with spontaneous TLS (STLS), which is cell lysis in the absence of chemotherapy. STLS is extremely rare in chronic lymphocytic leukemia (CLL). This has been documented only once in the medical literature, making this an extraordinarily uncommon case. We present here a 68-year-old male with a history of benign prostatic hyperplasia (BPH) who is admitted for a two-week history of abdominal pain and three days of anuria, despite adequate fluid intake. Laboratory values yielded a greatly elevated leukocyte count with a lymphocytic predominance and smudge cells. Potassium, phosphorus, and uric acid were also significantly increased. EKG revealed peaked T-waves. Flow cytometry confirmed the presence of an abnormal B-cell population consistent with B-cell chronic lymphocytic leukemia, with the following markers: CD19+, CD20+, CD23+, CD5+, CD10-. He was diagnosed with CLL and treated with aggressive fluid resuscitation, allopurinol and rasburicase. The patient had another similar episode within one month. His CLL fluorescence in-situ hybridization (FISH) showed complex cytogenetics with unmutated IgVH and he was subsequently started on ibrutinib.
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PMID:A Needle in the Haystack: A Rare Case of Spontaneous Tumor Lysis in Newly Diagnosed Chronic Lymphocytic Leukemia Unmasked by Acute Renal Failure. 3327 54