Down syndrome differential diagnosis: Difference between revisions
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{{Down syndrome}} | {{Down syndrome}} | ||
==Differential Diagnosis== | |||
Down syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as [[autoimmune polyendocrine syndrome]], [[POEMS syndrome]], Hirata syndrome, [[Kearns–Sayre syndrome]] and [[Wolfram syndrome|Wolfram syndromes]].<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref> | |||
{| class="wikitable" | |||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease | |||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Addison's disease | |||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Type 1 diabetes mellitus | |||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Hypothyroidism | |||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other disorders present | |||
|- | |||
|APS type 1 | |||
|<nowiki>+</nowiki> | |||
|Less common | |||
|Less common | |||
|[[Hypoparathyroidism]]<br>[[Candidiasis]]<br>[[Hypogonadism]] | |||
|- | |||
|APS type 2 | |||
| + | |||
| + | |||
| + | |||
|[[Hypogonadism]]<br>[[Malabsorption]] | |||
|- | |||
|APS type 3 | |||
|<nowiki>-</nowiki> | |||
| + | |||
|<nowiki>+</nowiki> | |||
|[[Malabsorption]] | |||
|- | |||
|[[Thymoma]] | |||
| + | |||
|<nowiki>-</nowiki> | |||
| + | |||
|[[Myasthenia gravis]]<br>[[Cushing syndrome]] | |||
|- | |||
|[[Chromosomal abnormalities]]<br>([[Turner syndrome]],<br>[[Down's syndrome]]) | |||
| - | |||
| + | |||
| + | |||
|[[Cardiac dysfunction ]] | |||
|- | |||
|[[Kearns–Sayre syndrome]] | |||
|<nowiki>-</nowiki> | |||
| + | |||
|<nowiki>-</nowiki> | |||
|[[Myopathy]]<br>[[Hypoparathyroidism]]<br>[[Hypogonadism]] | |||
|- | |||
|[[Wolfram syndrome]] | |||
|<nowiki>-</nowiki> | |||
| + | |||
|<nowiki>-</nowiki> | |||
|[[Diabetes insipidus]]<br>[[Optic atrophy]]<br>[[Deafness]]<br> | |||
|- | |||
|[[POEMS syndrome]] | |||
|<nowiki>-</nowiki> | |||
| + | |||
|<nowiki>-</nowiki> | |||
|[[Polyneuropathy]]<br>[[Hypogonadism]]<br>[[Plasma cell dyscrasia|Plasma cell dyscrasias]] | |||
|} | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Needs content]] | [[Category:Needs content]] | ||
Revision as of 20:13, 27 October 2017
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Differential Diagnosis
Down syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome, POEMS syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.[1][2][3][4][5]
| Disease | Addison's disease | Type 1 diabetes mellitus | Hypothyroidism | Other disorders present |
|---|---|---|---|---|
| APS type 1 | + | Less common | Less common | Hypoparathyroidism Candidiasis Hypogonadism |
| APS type 2 | + | + | + | Hypogonadism Malabsorption |
| APS type 3 | - | + | + | Malabsorption |
| Thymoma | + | - | + | Myasthenia gravis Cushing syndrome |
| Chromosomal abnormalities (Turner syndrome, Down's syndrome) |
- | + | + | Cardiac dysfunction |
| Kearns–Sayre syndrome | - | + | - | Myopathy Hypoparathyroidism Hypogonadism |
| Wolfram syndrome | - | + | - | Diabetes insipidus Optic atrophy Deafness |
| POEMS syndrome | - | + | - | Polyneuropathy Hypogonadism Plasma cell dyscrasias |
References
- ↑ Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
- ↑ Nozza, Andrea (2017). "POEMS SYNDROME: AN UPDATE". Mediterranean Journal of Hematology and Infectious Diseases. 9 (1): e2017051. doi:10.4084/mjhid.2017.051. ISSN 2035-3006.
- ↑ Maceluch JA, Niedziela M (2006). "The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy". Pediatr Endocrinol Rev. 4 (2): 117–37. PMID 17342029.
- ↑ Rigoli L, Di Bella C (2012). "Wolfram syndrome 1 and Wolfram syndrome 2". Curr. Opin. Pediatr. 24 (4): 512–7. doi:10.1097/MOP.0b013e328354ccdf. PMID 22790102.
- ↑ Husebye, Eystein S.; Anderson, Mark S. (2010). "Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis". Immunity. 32 (4): 479–487. doi:10.1016/j.immuni.2010.03.016. ISSN 1074-7613.