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)

Oral iron and zinc tolerance tests were performed in 12 patients between 8 and 21 years of age, with iron deficiency anemia and geophagia. Decreased iron and zinc absorption were detected respectively in patients against the elevated absorption curves in control subjects. Iron and zinc malabsorption may be an additional feature of the syndrome characterized by geophagia, iron deficiency anemia, hepatosplenomegaly, hypogonadism and dwarfism observed in Turkey and Iran.
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PMID:Decreased iron and zinc absorption in Turkish children with iron deficiency and geophagia. 9 53

Zinc takes part in the catalytic function of many metalloenzymes. In others it plays a role in conformational stability. In zinc deficient animals protein synthesis is disturbed. Conversely zinc metabolism is influenced by protein deficiency. Zinc takes part in drug metabolism, in mobilizing vitamin A from the liver, and in a system defending the organism against free radical damage. Zinc distribution in the organism is influenced by steroid hormones and leucocytic endogenous mediators. Of the intracellular zinc only a small part is bound to metalloenzymes, most being coordinated to binding sites of nonspecific proteins. Thus the organism defends itself against conformational changes of irritable enzymes which may bind excess zinc to side chains. Zinc can protect the organism against cadmium toxicity. In the serum the smaller part of zinc is firmly bound to several specific proteins, the majority being loosely bound to albumin. Some aspects of human zinc metabolism in health and disease are reviewed. Zinc deficiency in man is rare. In Iran and Egypt a syndrome of iron and zinc deficiency associated with anaemia, hepatosplenomegaly, dwarfism, and hypogonadism is known. In wound healing and tissue repair substitution of zinc is beneficial only if a zinc deficiency exists. For purposes of long term parenteral nutrition zinc should be added to the different infusion solutions.
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PMID:[The biological significance of zinc (author's transl)]. 120 Mar 35

1) Geophagia characterized by, severe, anaemia, dwarfism, hypogonadism and hepatosplenomegaly is sometimes seen in young patients (and children) in Iran. 2) Haematological aspects of the syndrome are those of, severe, iron deficiency anaemia. 3) Gastric biopsies and histological findings revealed superficial or atrophic gastritis showing some resemblance to those seen in pernicious anaemia. 4) Haematological features, anaemia and many of the clinical signs of the syndrome were improved after appropriate iron therapy. 5) Histological changes of gastric mucosa improved, in 5 patients, 6 months after correction of the anaemia.
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PMID:Studies on clinical, haematological aspects and pathological changes of gastric mucosa in geophagia. 123 30

The ultrastructure of intestinal mucosa in two geophagia patients with growth retardation, hypogonadism, hepatosplenomegaly, zinc deficiency, iron deficiency, and anemia was studied with an electron microscope. Alterations in the ultrastructure of intestinal mucosa, especially in Paneth's cells, possibly due to zinc deficiency were observed.
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PMID:Ultrastructural changes in the mucosa of the small intestine in patients with geophagia (Prasad's syndrome). 239 69

A patient with osteosclerotic myeloma and POEMS syndrome, unresponsive to pulse prednisone and melphalan therapy, was admitted to the hospital for a trial of plasma exchange therapy. The presentation included IgG lambda monoclonal gammopathy, peripheral neuropathy, hepatosplenomegaly, hyperpigmentation and thickening of the skin, edema, and tense ascites. Laboratory tests confirmed hypothyroidism, hypogonadism, and adrenal insufficiency. Six exchange procedures failed to affect the clinical course, and the patient died. Greater-than-one-plasma-volume exchanges (patient's measured plasma volume, 2,703 cc) were performed. When IgG and cholesterol removal were compared to the predicted removal, based on the volume of plasma removed, significantly less reduction in concentration than predicted was measured. IgG concentrations increased postapheresis and, at 2 weeks, three-fourths of the removed IgG had reaccumulated. A reduced efficiency of removal of both IgG and cholesterol can be explained by postulating increased vascular permeability with free exchange of soluble substances from one compartment to another. If an abnormal product is produced by the disease and is responsible for the clinical syndrome, a more intensive schedule of plasma exchange therapy may be needed to achieve a sustained depletion of the responsible soluble substance. Alternatively, neither increased vascular permeability or the clinical manifestations are responsive to removal of a soluble substance or are caused by a soluble substance produced by the malignancy.
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PMID:Therapeutic trial of plasma exchange in osteosclerotic myeloma associated with the POEMS syndrome. 299 55

A 48 years old male is reported. He presented with lower limb progressive and severe polyneuropathy, hypertrichosis, endocrinological alterations (hypothyroidism and hypogonadism) and organomegaly (hepatosplenomegaly and lymphadenopathies). This syndrome was associated with an osteosclerotic myeloma. The patient died two months after admission.
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PMID:[POEMS syndrome. A case report]. 772 96

Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712). Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. The gold standard for diagnosis of classical galactosaemia is measurement of GALT activity in erythrocytes. Gas-chromatographic determination of urinary sugars and sugar alcohols demonstrates elevated concentrations of galactose and galactitol. The only therapy for patients with classical galactosaemia is a galactose-restricted diet, and initially all galactose must be removed from the diet as soon as the diagnosis is suspected. After the neonatal period, a lactose-free diet is advised in most countries, without restriction of galactose-containing fruit and vegetables. In spite of the strict diet, long-term complications such as retarded mental development, verbal dyspraxia, motor abnormalities and hypergonadotrophic hypogonadism are frequently seen in patients with classical galactosaemia. It has been suggested that these complications may result from endogenous galactose synthesis or from abnormal galactosylation. Novel therapeutic strategies, aiming at the prevention of galactose 1-phosphate production, should be developed. In the meantime, the follow-up protocol for patients with GALT deficiency should focus on early detection, evaluation and, if possible, early intervention in problems of motor, speech and cognitive development.
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PMID:Classical galactosaemia revisited. 1683 75

The Prasad Syndrome is characterized by iron deficiency anemia, hepatosplenomegaly, skin changes, hypogonadism, dwarfism and geophagia. Hypogonadism is a major manifestation of zinc (Zn) deficiency in both humans and animals. T he mechanism of hypogonadism caused by Zn deficiency has not been clarified. We present a 19 year-old boy with short stature, pubertal arrest, iron deficiency anemia and Zn deficiency. Based on the dynamic tests, the hypogonadism seems to be due to hypothalamic dysfunction. T he growth retardation was associated with low IGF-I and normal growth hormone (GH) secretion, indicating GH receptor or post receptor defect. Growth acceleration and testicular development was observed after Zn supplementation. Zn deficiency, although very rare, should be considered in patients with poor growth and hypogonadism associated with skin changes and anemia.
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PMID:Pubertal arrest due to Zn deficiency: the effect of zinc supplementation. 1732 20

POEMS syndrome is a rare multisystem disorder, which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. We report a 15-year-old girl with POEMS syndrome, who developed growth retardation, delayed puberty, gradually increasing abdominal distention, brown skin pigmentation, hypogonadism, hepatosplenomegaly, lympadenomegaly, monoclonal gammopathy, and anemia. The patient dramatically responded to pulse steroid therapy. To our knowledge, this patient is one of the youngest reported cases of POEMS syndrome.
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PMID:Case report: POEMS syndrome in childhood. 1837 88

The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints. Homozygosity mapping in five consanguineous families resulted in the identification of mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Three mutations were found in 11 families of Arab and Bulgarian origin. The finding of several different mutations in a small geographic region implies that the H syndrome might be rather common. The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder.
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PMID:The H syndrome is caused by mutations in the nucleoside transporter hENT3. 1894 Mar 13


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