Galactosemia Echocardiography and Ultrasound: Difference between revisions
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==Overview== | ==Overview== | ||
[[Echocardiography]] is not useful in the [[diagnosis]] of [[galactosemia]]. On the other hand, [[ultrasonography]] provides useful information. | |||
==[[Echocardiographic]] features== | ==[[Echocardiographic]] features== | ||
[[Echocardiography]] is usually normal in [[galactosemia]]. | [[Echocardiography]] is usually normal in [[galactosemia]]. | ||
==[[Ultrasound]] findings== | ==[[Ultrasound]] findings== | ||
* [[Liver]] [[enlargement]]<ref name="pmid15729194">{{cite journal| author=Pozzato C, Curti A, Radaelli G, Fiori L, Rossi S, Riva E | display-authors=etal| title=Abdominal ultrasonography in inheredited diseases of carbohydrate metabolism. | journal=Radiol Med | year= 2005 | volume= 109 | issue= 1-2 | pages= 139-47 | pmid=15729194 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15729194 }} </ref> | |||
* Low [[ovarian]] [[antral]] [[follicle]] count<ref name="pmid23690308">{{cite journal| author=Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP | display-authors=etal| title=Modifiers of ovarian function in girls and women with classic galactosemia. | journal=J Clin Endocrinol Metab | year= 2013 | volume= 98 | issue= 7 | pages= E1257-65 | pmid=23690308 | doi=10.1210/jc.2013-1374 | pmc=3701263 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23690308 }} </ref> | |||
* Diminished [[ovarian]] [[volume]]<ref name="pmid22729817">{{cite journal| author=Gubbels CS, Land JA, Evers JL, Bierau J, Menheere PP, Robben SG | display-authors=etal| title=Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion. | journal=J Inherit Metab Dis | year= 2013 | volume= 36 | issue= 1 | pages= 29-34 | pmid=22729817 | doi=10.1007/s10545-012-9497-7 | pmc=3543609 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22729817 }} </ref> | |||
* [[Renal]] [[calculi]]<ref name="pmid31497475">{{cite journal| author=Sabatino JA, Starin D, Tuchman S, Ferreira C, Regier DS| title=Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula. | journal=JIMD Rep | year= 2019 | volume= 49 | issue= 1 | pages= 7-10 | pmid=31497475 | doi=10.1002/jmd2.12056 | pmc=6718118 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31497475 }} </ref> | |||
==References== | |||
Latest revision as of 23:19, 5 July 2022
Overview
Echocardiography is not useful in the diagnosis of galactosemia. On the other hand, ultrasonography provides useful information.
Echocardiographic features
Echocardiography is usually normal in galactosemia.
Ultrasound findings
- Liver enlargement[1]
- Low ovarian antral follicle count[2]
- Diminished ovarian volume[3]
- Renal calculi[4]
References
- ↑ Pozzato C, Curti A, Radaelli G, Fiori L, Rossi S, Riva E; et al. (2005). "Abdominal ultrasonography in inheredited diseases of carbohydrate metabolism". Radiol Med. 109 (1–2): 139–47. PMID 15729194.
- ↑ Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP; et al. (2013). "Modifiers of ovarian function in girls and women with classic galactosemia". J Clin Endocrinol Metab. 98 (7): E1257–65. doi:10.1210/jc.2013-1374. PMC 3701263. PMID 23690308.
- ↑ Gubbels CS, Land JA, Evers JL, Bierau J, Menheere PP, Robben SG; et al. (2013). "Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion". J Inherit Metab Dis. 36 (1): 29–34. doi:10.1007/s10545-012-9497-7. PMC 3543609. PMID 22729817.
- ↑ Sabatino JA, Starin D, Tuchman S, Ferreira C, Regier DS (2019). "Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula". JIMD Rep. 49 (1): 7–10. doi:10.1002/jmd2.12056. PMC 6718118 Check
|pmc=value (help). PMID 31497475.