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Gallbladder dysfunction

MedGen UID:
66680
Concept ID:
C0232769
Finding
Synonym: Abnormal gallbladder function
SNOMED CT: Abnormal gallbladder function (51047007)
 
HPO: HP:0005609

Term Hierarchy

Conditions with this feature

Metachromatic leukodystrophy
MedGen UID:
6071
Concept ID:
C0023522
Disease or Syndrome
Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD. Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. As the disease progresses, language, cognitive, and gross and fine motor skills regress. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD. Onset is between age 30 months and 16 years. Initial manifestations include decline in school performance and emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form. Adult MLD. Onset occurs after age 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures initially predominate. Peripheral neuropathy is common. Disease course is variable – with periods of stability interspersed with periods of decline – and may extend over two to three decades. The final stage is similar to earlier-onset forms.

Professional guidelines

PubMed

Dibaise JK
Expert Rev Gastroenterol Hepatol 2009 Jun;3(3):305-13. doi: 10.1586/egh.09.17. PMID: 19485811
Yost F, Margenthaler J, Presti M, Burton F, Murayama K
Am J Surg 1999 Dec;178(6):462-5. doi: 10.1016/s0002-9610(99)00228-7. PMID: 10670853
Klieger PS, O'Mara RE
Clin Nucl Med 1998 May;23(5):278-82. doi: 10.1097/00003072-199805000-00003. PMID: 9596151

Recent clinical studies

Etiology

Qandeel H, Nassar AHM, Ng HJ, El Zanati H
JSLS 2021 Apr-Jun;25(2) doi: 10.4293/JSLS.2021.00009. PMID: 33981137Free PMC Article
Wilkins T, Agabin E, Varghese J, Talukder A
Prim Care 2017 Dec;44(4):575-597. Epub 2017 Oct 5 doi: 10.1016/j.pop.2017.07.002. PMID: 29132521
Dairi S, Demeusy A, Sill AM, Patel ST, Kowdley GC, Cunningham SC
J Surg Res 2016 Feb;200(2):467-72. Epub 2015 Aug 28 doi: 10.1016/j.jss.2015.08.037. PMID: 26409755
Bielefeldt K, Saligram S, Zickmund SL, Dudekula A, Olyaee M, Yadav D
Dig Dis Sci 2014 Dec;59(12):2850-63. Epub 2014 Sep 6 doi: 10.1007/s10620-014-3342-9. PMID: 25193389
Corazziari E
Dig Liver Dis 2003 Jul;35 Suppl 3:S26-9. doi: 10.1016/s1590-8658(03)00090-2. PMID: 12974506

Diagnosis

Poddighe D, Dossybayeva K, Abdukhakimova D, Akhmaltdinova L, Ibrayeva A
Nutrients 2022 Oct 19;14(20) doi: 10.3390/nu14204379. PMID: 36297063Free PMC Article
Wilkins T, Agabin E, Varghese J, Talukder A
Prim Care 2017 Dec;44(4):575-597. Epub 2017 Oct 5 doi: 10.1016/j.pop.2017.07.002. PMID: 29132521
Goussous N, Kowdley GC, Sardana N, Spiegler E, Cunningham SC
Digestion 2014;90(3):147-54. Epub 2014 Oct 2 doi: 10.1159/000365844. PMID: 25278145
Bielefeldt K, Saligram S, Zickmund SL, Dudekula A, Olyaee M, Yadav D
Dig Dis Sci 2014 Dec;59(12):2850-63. Epub 2014 Sep 6 doi: 10.1007/s10620-014-3342-9. PMID: 25193389
Percy AK, Lane JB
J Child Neurol 2005 Sep;20(9):718-21. doi: 10.1177/08830738050200090301. PMID: 16225824

Therapy

Xu KJ, Brock JC, Goussous N, Sill AM, Cunningham SC
Am J Surg 2024 Mar;229:129-132. Epub 2023 Dec 13 doi: 10.1016/j.amjsurg.2023.12.010. PMID: 38110322
Cahan MA, Balduf L, Colton K, Palacioz B, McCartney W, Farrell TM
Surg Endosc 2006 Sep;20(9):1364-7. Epub 2006 Jul 20 doi: 10.1007/s00464-005-0247-x. PMID: 16858534
Percy AK, Lane JB
J Child Neurol 2005 Sep;20(9):718-21. doi: 10.1177/08830738050200090301. PMID: 16225824
DiBaise JK, Oleynikov D
Am J Gastroenterol 2003 Dec;98(12):2605-11. doi: 10.1111/j.1572-0241.2003.08772.x. PMID: 14687804
Morton JM, Bowers SP, Lucktong TA, Mattar S, Bradshaw WA, Behrns KE, Koruda MJ, Herbst CA, McCartney W, Halkar RK, Smith CD, Farrell TM
J Gastrointest Surg 2002 Nov-Dec;6(6):806-10; discussion 810-11. doi: 10.1016/s1091-255x(02)00087-2. PMID: 12504218

Prognosis

Qandeel H, Nassar AHM, Ng HJ, El Zanati H
JSLS 2021 Apr-Jun;25(2) doi: 10.4293/JSLS.2021.00009. PMID: 33981137Free PMC Article
Bielefeldt K, Saligram S, Zickmund SL, Dudekula A, Olyaee M, Yadav D
Dig Dis Sci 2014 Dec;59(12):2850-63. Epub 2014 Sep 6 doi: 10.1007/s10620-014-3342-9. PMID: 25193389
Kohlschütter A
Handb Clin Neurol 2013;113:1611-8. doi: 10.1016/B978-0-444-59565-2.00029-0. PMID: 23622382
Wald A
J Clin Gastroenterol 2005 May-Jun;39(5 Suppl 3):S217-22. doi: 10.1097/01.mcg.0000156112.76856.26. PMID: 15798488
Shaw SJ, Hajnal F, Lebovitz Y, Ralls P, Bauer M, Valenzuela J, Zeidler A
Dig Dis Sci 1993 Mar;38(3):490-6. doi: 10.1007/BF01316504. PMID: 8444081

Clinical prediction guides

Lee SH, Chung HW, Lee TY, Cheon YK
Medicina (Kaunas) 2023 Jan 3;59(1) doi: 10.3390/medicina59010105. PMID: 36676729Free PMC Article
Dibaise JK
Expert Rev Gastroenterol Hepatol 2009 Jun;3(3):305-13. doi: 10.1586/egh.09.17. PMID: 19485811
Wald A
J Clin Gastroenterol 2005 May-Jun;39(5 Suppl 3):S217-22. doi: 10.1097/01.mcg.0000156112.76856.26. PMID: 15798488
DiBaise JK, Oleynikov D
Am J Gastroenterol 2003 Dec;98(12):2605-11. doi: 10.1111/j.1572-0241.2003.08772.x. PMID: 14687804
Klieger PS, O'Mara RE
Clin Nucl Med 1998 May;23(5):278-82. doi: 10.1097/00003072-199805000-00003. PMID: 9596151

Recent systematic reviews

DiBaise JK, Oleynikov D
Am J Gastroenterol 2003 Dec;98(12):2605-11. doi: 10.1111/j.1572-0241.2003.08772.x. PMID: 14687804

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