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)

Circulating antibodies against certain nuclear acidic protein antigens have been shown to have diagnostic and prognostic importance in connective tissue disease. We describe a new precipitin system found in the sera of patients with systemic lupus erythematosus. The antigen, called MA, was prepared from calf thymus nuclei, and was shown to be distinct from other nuclear acidic protein antigens by physicochemical and immunologic techniques. MA antibodies were detected in the serum of 12 of 66 lupus patients and in none of 554 sera from normal controls or patients with other rheumatic diseases. Lupus patients having MA antibodies had more severe disease than did lupus patients with Sm or native DNA antibodies, manifested by recalcitrant skin rashes and a significantly greater incidence of hypocomplementemia, serious renal disease, hypertension, hepatosplenomegaly, lymphadenopathy, and neurological disease (P values range from 0.025 to 0.005). The presence of circulating MA antigen was demonstrated in three lupus patients immediately before a flare of nephritis. These data suggest that MA is a nuclear acidic protein antigen that may identify a subset of lupus patients with very severe disease. The presence of the antigen in the circulation before clinical flares suggests a possible biologic role for the MA system in an immune complex nephritis.
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PMID:Characterization of a distinct nuclear acidic protein antigen (MA) and clinical findings in systemic lupus erythematosus patients with MA antibodies. 8 19

The female patient initially showed the acquired type of total lipoatrophy at about 8 years of age. At 12 years of age, the onset of diabetes mellitus was speculated from advanced pyodermia and dedentition. At 29 years of age, glucosuria was found, and she developed proteinuria, ascites, and pretibial edema. The physical examination revealed: hepatosplenomegaly, complete absence of subcutanous fat, cutaneous xanthomas, and emaciated facies with pronounced zygomatic arches. Diabetic retinopathy was revealed in the ophthalmological examination, and nephropathy was evident in renal biopsy specimens. She also had peripheral diabetic neuropathy. No adipose tissue was found in the mesenterium under peritoneoscopy. The hepatic biopsy specimen revealed advanced portal liver cirrhosis. Laboratory findings included: hyperlipidemia, elevation of BMR without evidence of hyperthyroidism, impaired renal function, and undetected anti-insulin antibodies and anti-insulin antibodies. Endocrinological examinations revealed normal value, except for an impaired hGH response in the arginine test. C-peptide immunoreactivity was high. Her condition was fairly well controlled by 140 units of insulin injection daily.
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PMID:Lipoatrophic diabetes. Report of a case. 15 92

Amyloidosis is a rare but serious complication of inflammatory bowel disease (IBD), especially Crohn's disease (CD). It occurred in 15 of our 1709 patients with CD (0.9%) (706 with ileocolitis, 310 with colitis, and 693 with enteritis), but in only 1 of our 1341 patients with ulcerative colitis (UC) (0.07%), admitted to The Mount Sinai Hospital between 1960 and 1985. Eleven of the patients with CD who had amyloidosis had ileocolitis, 2 colitis, and 2 ileitis; these figures represent a frequency within each group of 1.6%, 0.6%, and 0.3%, respectively. Amyloidosis was thus associated 4.4 times more often with CD of the colon than with pure small bowel disease. We have added to this group of 15 patients the 5 cases of CD that were originally reported by Werther et al in 1960, plus another 4 (2 with UC and 2 with CD) who have been seen since 1985, making a total of 25 patients in this series, 22 with CD and 3 with UC. There was a striking male preponderance, 16 of 22, among patients with CD, although 2 of the 3 patients with UC were female. Amyloid disease was diagnosed at a mean age of 40 years, 15 years (range, 1-42) after the onset of CD. Six major forms of amyloidosis occurred: nephropathy, enteropathy, cardiomyopathy, hepatosplenomegaly, thyroid mass, and generalized amyloidosis. Renal disease with proteinurea and/or renal insufficiency occurred in 18 of the 22 patients with CD and in all 3 with UC. Nephropathy was by far the most common lethal manifestation of IBD-associated amyloidosis in this series. Nephrotic syndrome developed in 15 patients with CD and was accompanied by renal failure, the major contributor to mortality, in 10 of the 13 patients who died. Amyloidosis may be associated with suppurative or other extraintestinal manifestations of IBD. Fifteen of the 22 patients with CD who had amyloidosis also had suppurative complications of their bowel disease, although the other 7 had no recognizable suppuration. Extraintestinal manifestations were also common in this series, occurring in 12 of 22 patients with CD and in 2 of the 3 patients with UC; 6 of the 18 patients with nephrotic syndrome also had arthritis. However, there is no evidence that patients with IBD with amyloidosis have extraintestinal manifestations more frequently than do IBD patients without amyloidosis. Earlier reports of amyloid associated with IBD came from autopsy series. In recent years, biopsy has allowed diagnosis to be made during life.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Amyloidosis and inflammatory bowel disease. A 50-year experience with 25 patients. 152 2

The effect of cyclosporin A (CsA) on schistosomal nephropathy in infected mice with Schistosoma mansoni (S. Mansoni) has been investigated. Infected mice were orally treated with 50 mg/kg body weight of CsA for 5 consecutive days at the 8th, 12th, 16th week postinfection (p.i.). Four weeks after drug therapy, CsA aborted and retarded the progression of glomerular injury in all stages of the disease; particularly with early drug therapy. This was evidenced by the reduction in electron dense deposits and weak positivity by fluorescent microscope. This response was accompanied by amelioration of hepatosplenomegaly. The effects of CsA could be related to its known immunosuppressive effect on T-helper (Th) cells. Moreover, CsA had a profound anti-schistosomal activity as demonstrated by the significant decrease in worm burden specially female worms, and the increase in the percentage of mature and dead eggs in intestinal mucosa in this study. So, CsA would ameliorate the glomerular lesion in early stages of schistosomal nephropathy, mainly by its immunosuppressive effect, but in later stages, the direct anti-schistosomicidal effect would take the upper hand.
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PMID:Schistosomal nephropathy: effect of ciclosporin A (CsA) in murine schistosomiasis mansoni. 157 69

The main clinical features as well as the most important laboratory test in systemic lupus erythematosus (SLE) are reviewed. The peculiar aspects both in clinical presentation and in natural history of this disease in childhood are stressed. Personal experience is reported: 32 cases, 8 males and 24 females, mean age of onset 10.9 + 2.1 yrs, are evaluated. The most frequent clinical symptoms at diagnosis were fever, skin involvement and joint involvement, while anemia, nephropathy and hepatosplenomegaly were frequently present at onset. ANA were detected in all the subjects, anti dsDNA in 84% of cases; in only one patient SS-A/SS-B assayed positive. C4 was decreased in 17/32 cases at onset, in the others during the course of disease. Three patients died, 2 for infections, 1 for a non-Hodgkin lymphoma. Two cases present a chronic renal failure (1 is dialyzed).
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PMID:[Systemic lupus erythematosus in childhood: review of the literature and personal observations on 32 cases]. 209 78

We describe an infant with renal and liver disease who died at the age of 10 months from chronic renal failure. Hepatosplenomegaly was present along with biochemical findings of cholestasis and cytolysis. The diagnosis of tubulointerstitial nephropathy with cortical microcysts associated with hepatic fibrosis was based upon laboratory, radiological, and histological data. This rarely described disorder is characterized by an early clinical onset and unfavourable progression to end-stage renal failure before the age of 2.
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PMID:Progressive tubulointerstitial nephropathy with hepatic involvement in an infant. 217 36

Schistosomiasis mansoni has been well documented as one of the causes of infectious glomerulopathy, with mesangiocapillary glomerulonephritis being the most frequent lesion observed in this condition. Twenty-one patients with hepatosplenic schistosomiasis mansoni and biopsy-documented mesangiocapillary glomerulonephritis (MCGN) were studied and compared with 19 patients with the idiopathic form of MCGN. Nephrotic syndrome was the most frequent clinical presentation in both groups. At the time of diagnosis nine patients with hepatosplenomegaly (4 with associated arterial hypertension) and 12 (8 with arterial hypertension) among the patients with idiopathic MCGN had renal insufficiency. At the end of the follow-up period 16 patients with hepatosplenic schistosomiasis and MCGN (75.2 months) and 15 with the idiopathic form (52.1 months) had renal failure. Also, when compared at 48 months of follow-up, no difference in renal function could be detected in both groups. No benefits related to anti-parasitic treatment in the schistosomiasis group and immunosuppression therapy in either group could be documented. The progression of the renal disease, as assessed by the reciprocal of serum creatinine versus time, and the survival curve, were not different between the two groups. It is concluded that MCGN in patients with the hepatosplenic form of schistosomiasis mansoni is a progressive disease not influenced by anti-parasitic or immunosuppressive therapy, and presents a clinical course similar to that of the idiopathic form.
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PMID:Schistosoma mansoni-induced mesangiocapillary glomerulonephritis: influence of therapy. 250 87

This report concerns a boy presenting renal disease with tubulointerstitial nephropathy which suggests familial juvenile nephronophthisis, hepatosplenomegaly due to congenital hepatic fibrosis, tapetoretinal degeneration, probable endocrine involvement and congenital skeletal abnormalities. The associations presented in this paper have not previously been reported.
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PMID:Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis. 274 40

We describe new pathologic findings in two sibs with Farber lipogranulomatosis. The first child, a 3-month-old boy, presented with only hepatosplenomegaly and had a fulminant clinical course suggestive of malignant histiocytosis. The second child, a 5 1/2-month-old girl, had the typical clinical presentation of Farber disease, with hoarseness and painful swollen joints. At autopsy, storage material was demonstrated in the second child at laryngeal and periarticular subcutaneous sites. Visceral involvement was prominent in both sibs, although not typical of the disease, and included a newly described nephropathy with elevated urine ceramide levels. Liver and spleen contained massive histiocytic infiltrates in association with elevated ceramide levels. Lymph nodes also contained histiocytic infiltrates but without the sinusoidal involvement typical of proliferative histiocytic disorders. These two cases demonstrate new pathologic anomalies in Farber disease, indicating that biochemical analyses of biopsy specimens may be necessary to establish the diagnosis of Farber disease when atypical clinical and morphologic anomalies are present.
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PMID:Farber disease: pathologic diagnosis in sibs with phenotypic variability. 313 Aug 60

We report the clinical features of 7 men (mean age 22 years, range 7-53 years) with congenital hepatic fibrosis (CHF). Five patients presented with variceal bleeding and/or hepatosplenomegaly due to portal hypertension. Cholangitis was the presenting symptom in the other 2 cases. Diagnosis was established by histological examination of a surgical wedge biopsy (4 patients) or needle biopsy (3 patients). A portal-systemic shunting was performed in 6 patients, three times prophylactically. None of the 5 survivors developed chronic hepatic encephalopathy. Recurrent bouts of cholangitis with septicemia and hepatic abscesses were a major complication in 5 patients with a fatal outcome in 2 cases. Six patients had associated small and large cysts in the cortex of both kidneys, compatible with adult-type polycystic disease. One patient developed terminal renal insufficiency. In 3 patients kidney function remained normal at a mean follow-up time of 7.5 years (range 1-18 years). In 2 families (4 cases) an autosomal dominant inheritance of renal disease was suggested. This study demonstrates that CHF is a rare cause of portal hypertension in late childhood and in adults. Cholangitis is a severe and frequently fatal complication. Association with a variety of congenital renal abnormalities is very frequent. However, the association with adult-type polycystic disease as reported in 4 cases is very rare.
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PMID:Congenital hepatic fibrosis. 341 Nov 2


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