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)

A 65-year-old white female patient with normal baseline renal function was referred to our hospital with nonoliguric renal failure requiring hemodialysis after progressive deterioration over the previous 6 months. Her past medical history was remarkable for easy fatigability, weight loss, low-grade fever, hypogammaglobulinemia and mild hepatosplenomegaly manifested over the past 6 years. Several liver and bone marrow biopsies during that period had shown a nonspecific polyclonal T-cell infiltration, and she was administered low-dose steroids for symptomatic relief. Physical examination, laboratory workup and imaging studies at presentation showed pancytopenia, hepatosplenomegaly, large symmetric kidneys with normal cortices and no evidence of obstructive uropathy, aseptic pyuria with neutrophils and lymphocytes and mild proteinuria. On biopsy the renal interstitium was infiltrated by large, granular CD3+CD8+CD56-CD57+ lymphocytes, clonal by molecular analysis, which established the diagnosis of T-cell large granular lymphocyte leukemia. Most urinary and peripheral blood lymphocytes bore the same T-LGL surface markers and were also clonal, as shown by flow-cytometry and PCR amplification of the T-cell receptor g-chain genes. A subsequent bone marrow biopsy revealed infiltration by lymphoma cells and excluded a myelodysplastic or hemophagocytic syndrome. After exclusion of an underlying EBV, CMV, HBV, HCV or HIV infection with negative serology and blood PCR the patient received one cycle of chemotherapy with cyclophosphamide, vincristine and prednisone. No improvement of renal function was achieved, while complication with a prolonged pulmonary infection and severe sepsis precluded further treatment. Our report indicates that the T-LGL leukemia should be considered in the differential diagnosis of renal failure with large-sized kidneys, especially when hepatosplenomegaly, pancytopenia and aseptic pyuria are also present. In the latter case, flow-cytometric and clonality analysis of the urine sediment can aid in establishing a diagnosis. Since renal function may deteriorate rapidly, chemotherapy should not be delayed.
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PMID:T-cell large granular lymphocyte leukemia presenting as end-stage renal disease: the diagnostic role of flow-cytometric and clonality analysis of the urine sediment. 1920 16

Urinothorax, an unusual and rare cause of pleural effusion, is usually secondary to urinary obstruction and abdominal trauma. We describe an uncommon case of left-sided urinothorax in a 35-year-old man with diabetes and hypothyroidism associated with an autoimmune disorder without obvious obstructive uropathy. Workup revealed pancytopenia, mild proteinuria, positive anti-nuclear and anti-dsDNA antibodies suggestive of probable systemic lupus erythematosus. Contrast-enhanced CT-chest and abdomen showed hepatosplenomegaly with bilateral renal abscesses and a fistulous connection between left superior calyx and left the pleural cavity. Patient was initially managed by intravenous antibiotics, intercostal tube drainage and ipsilateral double-J stent placement. The definitive management in the form of closure of nephropleural fistula was achieved with sclerotherapy using 0.1% povidone-iodine instillation, while oral steroids were started for the probable autoimmune disorder. To the best of our knowledge, this is the first case of spontaneous non-obstructive nephropleural fistula associated with an autoimmune disorder, managed by minimally invasive methods.
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PMID:Spontaneous non-obstructive nephropleural fistula with an autoimmune disorder causing massive urinothorax: a rare association. 2895 16

Arora SK, Swarnim S, Hemal A, Bidhuri N. Acute lymphoblastic leukemia presenting as nephromegaly in a child: A rare case report. Turk J Pediatr 2019; 61: 97-101. Acute leukemia is the commonest pediatric malignancy with acute lymphoblastic leukemia (ALL) constituting about 75% of all leukemias. ALL commonly presents as fever, bleeding, bone pains, anemia, lymphadenopathy and hepatosplenomegaly. The liver, spleen or lymph nodes are the most common sites of extramedullary involvement in ALL, with renal involvement being relatively uncommon. The usual differential diagnosis of acquired massive bilateral nephromegaly in children includes pyelonephritis, obstructive uropathy, infections such as HIV nephropathy, mucormycosis, glycogen storage diseases, myelofibrosis with extramedullary hematopoiesis, kidney tumors and rarely hematological malignancies like ALL. Here we report a 2 years old child who presented with abdominal distention, low grade fever and constipation. Clinical examination revealed massive bilateral nephromegaly. Preliminary investigations showed severe anemia and slightly elevated WBC counts with presence of reactive changes in lymphocytes along with few atypical cells (9%). Abdominal ultrasonography revealed bilaterally enlarged kidneys which was later confirmed by CT abdomen. He was eventually diagnosed with CALLA positive B cell ALL for which treatment was started in accordance with the International network for cancer treatment and research (INCTR) protocol 02 04. At present, he is on maintenance phase and responding well to the treatment with regression of kidney size to normal on follow up ultrasonogram. Thus, leukemia should be considered in a child presenting with bilateral nephromegaly after exclusion of above mentioned differential diagnosis. Bone marrow aspiration must be done before doing a more invasive investigation like renal biopsy.
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PMID:Acute lymphoblastic leukemia presenting as nephromegaly in a child: A rare case report. 3155 28