Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical, pathologic, and biochemical data are reported in two male infants who had rapidly progressive renal failure, enlarged kidneys, hepatosplenomegaly, and fat malabsorption. One infant, studied prior to the onset of significant renal insufficiency, manifested renal Fanconi syndrome, hyperparathyroidism, and marked hypocalcemia. After a brief period of dialysis, both received renal transplants. Neither has clinical evidence of reoccurrence of the renal disorder in the transplant, but both still have hepatic abnormalities. Morphologic features present in both patients include a renal lesion characterized by tubulointerstitial injury with a tubulocystic component and hepatic abnormalities with bile duct proliferation, portal fibrosis, and inflammation. These cases do not readily conform to any single published diagnostic category, including nephronophthisis-congenital hepatic fibrosis or infantile polycystic kidney disease, and appear to be unique.
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PMID:Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. 352 22

Adult T-cell leukemia (ATL) is endemic in southwestern Japan, in the Caribbean islands, and in central Africa. Human T-cell lymphotropic virus type I (HTLV-I) is the etiologic agent of ATL. The clinical characteristics are (1) onset in adulthood, (2) subacute or chronic leukemia with rapidly progressive terminal course, (3) frequent skin lesions, (4) lymphadenopathy that characteristically spares the mediastinum, (5) hepatosplenomegaly, (6) hypercalcemia, and (7) a tendency toward geographical clustering. Although hypercalcemia and osteoclastic activity due to parathyroid hormone-related peptide are frequently reported histologically, radiographic abnormalities of bone are not common. Two major patterns of osteolytic lesions observed in ATL are "punched-out" lesions resembling multiple myeloma and osteolytic metastasis and subperiosteal bone resorptions similar to those in hyperparathyroidism.
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PMID:Adult T-cell leukemia. 1150 Jan 47

In this paper we describe a patient with polycythemia vera (PV), who presented with hypercalcemia due to a parathyroid adenoma. In November 1999, the patient was admitted to our hospital with meteorism and constipation. Her physical examination revealed plethora and hepatosplenomegaly. Laboratory data revealed hyperparathyroidism in addition to PV: Rbc 8 x 10(6)/mm3, Hct 63.7%, serum calcium 13.4 mg/dl, serum phosphorus 1.2 mg/dl, albumin 4.25 mg/dl, and alkaline phophatase activity 433 U/l. Intact Parathyroid Hormone level (iPTH) was 376 pg/ml (n.v.12-72 pg/ml). Twenty-four hour urinary calcium excretion was higher than normal (900 mg). A parathyroid adenoma was detected with Tc-99m sesta-MIBI scanning under the left lobe of the thyroid gland and an ultrasonographic examination of the neck also supported the diagnosis. The patient was recommended for surgery. The histopathological examination confirmed the diagnosis. Postoperatively, iPTH dropped to 53.4 pg/ml at the 15 th minute and to 33.5 pg/ml at the first hour. The calcium level was 7.5 mg/dl one hour after the operation. Five days later, Hct was 40.8%. This case represents a rare association between PV and primary hyperparathyroidism, and may provide evidence for a causal link between PTH and polycythemia vera in our patient. In conclusion, this case indicates that the differential diagnosis of hypercalcemia and polycythemia vera should also include the possibility of a parathyroid tumor in addition to malignancy.
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PMID:An unusual cause of hypercalcemia in polycythemia vera: parathyroid adenoma. 1210 88

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion.
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PMID:A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism. 2657 9

Polyneuropathy, Organomegaly, Endocrinopathy, M protein and Skin changes (POEMS) syndrome is rare plasma cell dyscrasia with multisystem involvement. The name comes from the five characteristic features: Polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes. The presence of biclonal M band is a rare manifestation. Here, we are describing the cases of a 60-year-old lady, presented with bilateral pedal oedema and pericardial effusion and peripheral neuropathy. She also had hepatosplenomegaly, hyperpigmented rash and hypothyroidism and hyperparathyroidism. The serum protein electrophoresis and the immunofixation electrophoresis revealed two distinct monoclonal bands, immunoglobulin IgG kappa and IgA lambda. There was a mild increase in plasma cells and sclerotic bone lesion in pelvis. The POEMS syndrome is generally associated with lambda light chain restriction. The presence of biclonal gammopathy involving kappa and lambda is a rare manifestation. The pathogenic or prognostic role of different paraprotein is not known. Further studies are required to delineate such effect.
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PMID:POEMS Syndrome with Biclonal Gammopathy: A Rare Association. 2889 29