REVIEW PAPER
Hepato- and splenomegaly in selected metabolic diseases – diagnostics and differentiation
Publication date: 2018-03-19
Pediatr Pol 2018;93(1):74-79
KEYWORDS
ABSTRACT
Hepatomegaly and splenomegaly are non-specific symptoms, which may be found both in pathology and in physiology in certain age groups. Liver enlargement may be associated with the dysfunction of this organ; however, it is not an obligatory fact. Therefore, the diagnostics of isolated hepatomegaly or hepatosplenomegaly should be complex, and it involves a multidisciplinary approach.
The aim of this manuscript was to present the pathogenesis and diagnostic process of hepato- and splenomegaly in metabolic diseases.
The aim of this manuscript was to present the pathogenesis and diagnostic process of hepato- and splenomegaly in metabolic diseases.
REFERENCES (31)
1.
Wolf AD, Lavine JE. Hepatomegaly in neonates and children. Ped Rev 2000; 21: 303-310.
2.
Weinreb NJ, Rosenbloom BE. Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly. Open J Genet 2013; 3: 24-43.
3.
Schuppan D. Liver fibrosis: common mechanisms and antifibrotic therapies. Clin Res Hepatol Gastroenterol 2015; 39: 51-59.
4.
Lipiński P, Jankowska I, Grenda R. Choroby wątroby i nerek w przebiegu ciliopatii. Ped Pol 2017; 92: 121-128.
5.
Giouleme O, Theocharidou E. Management of portal hypertension in children with portal vein thrombosis. J Pediatr Gastroenterol Nutr 2013; 57: 419.
6.
Pawłowska J, Klaudel-Dreszler M, Tylki-Szymańska A. Hepato- i splenoemgalia. W: Gastroenterologia dziecięca – podręcznik do specjalizacji. Socha P, Lebensztejn D, Kamińska D (red.). Wydawnictwo Media-Press Sp. z o.o., Warszawa 2016; 213-217.
7.
Ali N, Anwar M, Ayyub M i wsp. Hematological evaluation of splenomegaly. J Coll Physicians Surg Pak 2004; 14: 404.
8.
Donadieu J, Fenneteau O, Beaupain B i wsp. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011; 6: 26.
9.
Goldstein J, Austin S, Kishnani P, Bali D. Phosphorylase kinase deficiency. W: SourceGeneReviews®. Pagon RA, Adam MP, Ardinger HH i wsp. (red.). University of Washington, Seattle; 1993-2014.
10.
Roscher A, Patel J, Hewson S i wsp. The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada. Mol Genet Metab 2014; 113: 171-176.
11.
Patterson MC, Hendriksz CJ, Walterfang M i wsp. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 2012; 106: 330-344.
12.
Tylki-Szymanska A, Wamelink MMC, Stradomska TJ i wsp. Clinical and molecular characteristics of two transaldolase-deficient patients. Eur J Pediatr 2014; 173: 1679-1682.
13.
Tylki-Szymańska A, Stradomska TJ, Wamelink MM i wsp. Transaldolase deficiency in two new patients with a relative mild phenotype. Mol Genet Metab 2009; 97: 15-17.
14.
Raskovalova T, Deegan PB, Yang R i wsp. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. Syst Rev 2017; 6: 87.
15.
Ribas GS, Souza HM, de Mari J i wsp. Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis. Clin Chim Acta 2016; 459: 57-62.
16.
Motlagh B, Taghikhani M, Khatami S, Zamanfar D. Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population. Genet Test Mol Biomarkers 2016; 20: 31-36.
17.
Langereis EJ, Wagemans T, Kulik W i wsp. A multiplex assay for the diagnosis of mucopolisaccharidoses and mucolipidoses. PLoS One 2015; 10: e0138622.
18.
Leadley RM, Lang S, Misso K i wsp. A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. Orphanet J Rare Dis 2014; 9: 173.
19.
Garavelli L, Santoro L, Iori A i wsp. Multiple sulfatase deficiency with neonatal manifestation. Ital J Pediatr 2014; 40: 86.
20.
Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 2014; 12: 72-81.
21.
Stirnemann J, Belmatoug N, Camou F i wsp. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 2017. https://doi: 10.3390/ijms18020441.
22.
Tylki-Szymańska A, Jurecka A. Lysosomal acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. Pril 2014; 35: 99-106.
23.
Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings of 135 reported patients with an underdiagnosed disease. J Hepatol 2013; 58: 1230-1243.
25.
Armstrong MJ, Corbett C, Hodson J i wsp. Operator training requirements and diagnostic accuracy of fibroscan in routine clinical practice. Postgrad Med J 2013; 89: 685-692.
26.
Celiński K, Cichoż-Lach H. Badania laboratoryjne w diagnostyce chorób wątroby. W: Wielka interna. Gastroenterologia, część 1. Dąbrowski A (red.). Medical Tribune, Warszawa 2010; 53-59.
27.
Jańczyk W, Socha P. Podwyższona aktywność aminotransferaz. W: Gastroenterologia dziecięca – podręcznik do specjalizacji. Socha P, Lebensztejn D, Kamińska D (red.). Wydawnictwo Media-Press Sp. z o.o., Warszawa 2016; 220-222.
28.
Schwimmer JB, Dunn W, Norman GJ i wsp. SAFETY study: alanine aminotransferase cutoff values are set too high for reliable detection of pediatric chronic liver disease. Gastroenterol 2013; 138: 1357-1364.
29.
Vanier MT, Gissen P, Bauer P i wsp. Diagnostic tests for Niemann-Pick disease type C (NP-C): a critical review. Mol Genet Metabol 2016; 118: 244-254.
30.
Polo G, Burlina AP, Kolamunnage TB i wsp. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. Clin Chem Lab Med 2017; 55: 403-414.
31.
Bamshad MJ, Ng SB, Bigham AW i wsp. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12: 745-755.
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