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)

Amyloid goitre, defined as diffuse hyperplasia of the thyroid due to infiltration of amyloid substance, has been rarely reported as in confirmed by the latest reviews of the literature. This paper reports the case of a 23-year-old patient with a long history of systemic amyloidosis probably secondary to a Mediterranean fever with diffuse lymphoadenopathy, hepatosplenomegaly and chronic renal insufficiency, who was referred to our attention due to a struma which had increased in volume over the past few years. Aspirated needle biopsy showed the presence of amyloid and the patient underwent total thyroidectomy; the histological test confirmed amyloid struma. The postoperative evolution was normal and characterised by a slight but transient deterioration of renal function. The authors stress the importance of cytological tests using aspirated needle biopsy under polarised light and after Congo Red staining; this is the only test which enables a preoperative diagnosis to be made, thus conditioning the choice of surgery, even if full thyroidectomy is almost certain given the size of the goitre and the systemic pathogenesis of amyloidosis.
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PMID:[Amyloid goiter]. 897 65

Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease that was firstly described in patients with early-onset strokes, livedo reticularis, and periodic fever resembling polyarteritis nodosa. In reported case series, researchers described highly variable manifestations, including autoimmunity, immunodeficiency, hepatosplenomegaly, pancytopenia, ichthyosiform rash, and arthritis, in patients with DADA2. A thirteen-year-old female patient who was born to consanguineous parents was admitted to our hospital with generalized edema and leg pain. A physical examination revealed splenomegaly and left knee arthritis. Nephrotic-range proteinuria and hypoalbuminemia were present, and a renal biopsy revealed amyloidosis. Despite the absence of periodic fever and livedo reticularis, our patient had suggestive features of DADA2, including low serum immunoglobulin G and immunoglobulin M levels, hepatosplenomegaly, and renal amyloidosis. We found a heterozygote Met694Val mutation in the Mediterranean fever gene and a novel homozygote Thr317Argfs*25 (c.950-950delCys) mutation in the cat eye chromosome region 1 gene. A functional analysis revealed absent plasma adenosine deaminase 2 activity. Canakinumab was administered because of unresponsive proteinuria despite 2 months of treatment with colchicine and methylprednisolone. Proteinuria improved after 7 doses of canakinumab. In conclusion, DADA2 should be considered in the differential diagnosis of renal amyloidosis, particularly in the absence of homozygote Mediterranean fever mutations. Although anti-tumor necrosis factor agents are widely offered in DADA2 treatment, we speculate that canakinumab may be an appropriate treatment of renal amyloidosis in DADA2.
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PMID:Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab. 3037 39