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Fluctuating splenomegaly

MedGen UID:
322770
Concept ID:
C1835882
Finding
HPO: HP:0006268

Definition

Intermittently increased size of the spleen. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFluctuating splenomegaly

Conditions with this feature

Mevalonic aciduria
MedGen UID:
368373
Concept ID:
C1959626
Disease or Syndrome
Mevalonic aciduria (MEVA), the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003).
Immunodeficiency 78 with autoimmunity and developmental delay
MedGen UID:
1785772
Concept ID:
C5543159
Disease or Syndrome
Immunodeficiency-78 with autoimmunity and developmental delay (IMD78) is an autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. Many patients die prematurely, but successful hematopoietic bone marrow transplant may be curative (summary by Lu et al., 2014 and Atallah et al., 2021).

Professional guidelines

PubMed

Mueller YK, Kolaczinski JH, Koech T, Lokwang P, Riongoita M, Velilla E, Brooker SJ, Chappuis F
Am J Trop Med Hyg 2014 Jan;90(1):33-39. Epub 2013 Nov 11 doi: 10.4269/ajtmh.13-0150. PMID: 24218406Free PMC Article

Recent clinical studies

Etiology

Debash H, Bisetegn H, Nigatie M, Abeje G, Feleke DG
Sci Rep 2023 Jan 17;13(1):931. doi: 10.1038/s41598-023-28139-5. PMID: 36650391Free PMC Article
Hung le Q, Vries PJ, Giao PT, Nam NV, Binh TQ, Chong MT, Quoc NT, Thanh TN, Hung LN, Kager PA
Bull World Health Organ 2002;80(8):660-6. PMID: 12219158Free PMC Article
Gryseels B, Stelma F, Talla I, Polman K, Van Dam G, Sow S, Diaw M, Sturrock RF, Decam C, Niang M
Mem Inst Oswaldo Cruz 1995 Mar-Apr;90(2):271-6. doi: 10.1590/s0074-02761995000200025. PMID: 8531670
Conley ME, Park CL, Douglas SD
J Pediatr 1986 Jun;108(6):915-22. doi: 10.1016/s0022-3476(86)80927-1. PMID: 2423668
Ssebabi EC
CRC Crit Rev Clin Lab Sci 1975 Jun;6(1):19-45. doi: 10.3109/10408367509151563. PMID: 806420

Diagnosis

Debash H, Bisetegn H, Nigatie M, Abeje G, Feleke DG
Sci Rep 2023 Jan 17;13(1):931. doi: 10.1038/s41598-023-28139-5. PMID: 36650391Free PMC Article
Gryseels B, Stelma F, Talla I, Polman K, Van Dam G, Sow S, Diaw M, Sturrock RF, Decam C, Niang M
Mem Inst Oswaldo Cruz 1995 Mar-Apr;90(2):271-6. doi: 10.1590/s0074-02761995000200025. PMID: 8531670
Schofield JR, Robinson WA
Am J Hematol 1995 Mar;48(3):186-91. doi: 10.1002/ajh.2830480309. PMID: 7864027
Gryseels B, Stelma FF, Talla I, van Dam GJ, Polman K, Sow S, Diaw M, Sturrock RF, Doehring-Schwerdtfeger E, Kardorff R
Trop Geogr Med 1994;46(4 Spec No):209-19. PMID: 7825223
Watson AD, Yeats JA
Aust Vet J 1984 Feb;61(2):61-3. doi: 10.1111/j.1751-0813.1984.tb07194.x. PMID: 6732671

Therapy

Hung le Q, Vries PJ, Giao PT, Nam NV, Binh TQ, Chong MT, Quoc NT, Thanh TN, Hung LN, Kager PA
Bull World Health Organ 2002;80(8):660-6. PMID: 12219158Free PMC Article
Gryseels B, Stelma F, Talla I, Polman K, Van Dam G, Sow S, Diaw M, Sturrock RF, Decam C, Niang M
Mem Inst Oswaldo Cruz 1995 Mar-Apr;90(2):271-6. doi: 10.1590/s0074-02761995000200025. PMID: 8531670
Gryseels B, Stelma FF, Talla I, van Dam GJ, Polman K, Sow S, Diaw M, Sturrock RF, Doehring-Schwerdtfeger E, Kardorff R
Trop Geogr Med 1994;46(4 Spec No):209-19. PMID: 7825223
Conley ME, Park CL, Douglas SD
J Pediatr 1986 Jun;108(6):915-22. doi: 10.1016/s0022-3476(86)80927-1. PMID: 2423668
Watson AD, Yeats JA
Aust Vet J 1984 Feb;61(2):61-3. doi: 10.1111/j.1751-0813.1984.tb07194.x. PMID: 6732671

Prognosis

Kawano Y, Sanada Y, Urahashi T, Ihara Y, Okada N, Yamada N, Hirata Y, Katano T, Taniai N, Matsuda A, Miyashita M, Yoshida H, Mizuta K
Transplant Proc 2018 Nov;50(9):2718-2722. Epub 2018 Mar 15 doi: 10.1016/j.transproceed.2018.03.071. PMID: 30401384
Matito A, Morgado JM, Álvarez-Twose I, Sánchez-Muñoz L, Pedreira CE, Jara-Acevedo M, Teodosio C, Sánchez-López P, Fernández-Núñez E, Moreno-Borque R, García-Montero A, Orfao A, Escribano L
PLoS One 2013;8(10):e76116. Epub 2013 Oct 14 doi: 10.1371/journal.pone.0076116. PMID: 24155887Free PMC Article
Schofield JR, Robinson WA
Am J Hematol 1995 Mar;48(3):186-91. doi: 10.1002/ajh.2830480309. PMID: 7864027
Gryseels B, Stelma FF, Talla I, van Dam GJ, Polman K, Sow S, Diaw M, Sturrock RF, Doehring-Schwerdtfeger E, Kardorff R
Trop Geogr Med 1994;46(4 Spec No):209-19. PMID: 7825223
Conley ME, Park CL, Douglas SD
J Pediatr 1986 Jun;108(6):915-22. doi: 10.1016/s0022-3476(86)80927-1. PMID: 2423668

Clinical prediction guides

Matito A, Morgado JM, Álvarez-Twose I, Sánchez-Muñoz L, Pedreira CE, Jara-Acevedo M, Teodosio C, Sánchez-López P, Fernández-Núñez E, Moreno-Borque R, García-Montero A, Orfao A, Escribano L
PLoS One 2013;8(10):e76116. Epub 2013 Oct 14 doi: 10.1371/journal.pone.0076116. PMID: 24155887Free PMC Article
Gryseels B, Stelma F, Talla I, Polman K, Van Dam G, Sow S, Diaw M, Sturrock RF, Decam C, Niang M
Mem Inst Oswaldo Cruz 1995 Mar-Apr;90(2):271-6. doi: 10.1590/s0074-02761995000200025. PMID: 8531670
Schofield JR, Robinson WA
Am J Hematol 1995 Mar;48(3):186-91. doi: 10.1002/ajh.2830480309. PMID: 7864027
Gryseels B, Stelma FF, Talla I, van Dam GJ, Polman K, Sow S, Diaw M, Sturrock RF, Doehring-Schwerdtfeger E, Kardorff R
Trop Geogr Med 1994;46(4 Spec No):209-19. PMID: 7825223
Ssebabi EC
CRC Crit Rev Clin Lab Sci 1975 Jun;6(1):19-45. doi: 10.3109/10408367509151563. PMID: 806420

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