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{{Fanconi syndrome}}
{{Fanconi syndrome}}


{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{VE}}  


==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
Physical examination of patients suffering from Fanconi syndrome, most likely relate to the underlying etiology of the syndrome as the clinical presentation of the disease mainly shows up with the symptoms patients are concerned about.  


OR
Nevertheless the most common physical examination findings in most cases of the disease include Growth retardation, short stature, weight loss and bony malformations<ref name="pmid13381735">{{cite journal| author=ENGLE RL, WALLIS LA| title=The adult Fanconi syndrome. II.  Review of eighteen cases. | journal=Am J Med | year= 1957 | volume= 22 | issue= 1 | pages= 13-23 | pmid=13381735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13381735  }}</ref><ref>Fanconi G. Der nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Deutsche Medizinische Wochenschrift 1936; 62: 1169–1171</ref>.
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


==Physical Examination==
==Physical Examination==
* Physical examination of patients with [disease name] is usually normal.
*Physical examination of patients with Fanconi syndrome is usually remarkable for: Growth retardation,short stature, weight loss and bony malformations.
OR
*Physical examination of patients with [disease name] is usually remarkable for:[finding 1], [finding 2], and [finding 3].
*The presence of [finding(s)] on physical examination is diagnostic of [disease name].
*The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*Patients with Fanconi syndrome usually appear weak with walking difficulty in adulthood and with growth failure and short stature in childhood.  


===Vital Signs===
===Vital Signs===


*High-grade / low-grade fever
*Vital signs of Fanconi syndrome patients are within normal limits except for probable mild "Tachycarida" in dehydrated patients.
*[[Hypothermia]] / hyperthermia may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
* Skin examination of patients with Fanconi syndrome is essentially normal.
OR
* [[Jaundice]] might be seen in the context of [[Galactosemia]], [[Hereditary fructose intolerance]], [[Wilson's disease|Wilson disease]] and [[Tyrosinemia]].
*[[Cyanosis]]  
* Skin cysts might be presented in cases with [[Oculocerebrorenal syndrome|LOWE syndrome]].
*[[Jaundice]]
===HEENT===
* [[Pallor]]
* HEENT examination of patients with Fanconi syndrome is usually normal except for associated conditions of underlying genetic diseases leading to Fanconi syndrome, some of which are listed below:
* Bruises
* Congenital cataracts in Galactosemia.
 
<gallery widths="150px">
 
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}


</gallery>
* Deep set eyes, congenital [[cataracts]], infantile [[glaucoma]], corneal keloids, lens opacities, frontal bossing and full cheeks are found in LOWE syndrome cases<ref name="pmid9917791">{{cite journal| author=Lin T, Lewis RA, Nussbaum RL| title=Molecular confirmation of carriers for Lowe syndrome. | journal=Ophthalmology | year= 1999 | volume= 106 | issue= 1 | pages= 119-22 | pmid=9917791 | doi=10.1016/S0161-6420(99)90012-X | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9917791  }}</ref>.
 
* Corneal Kayser–Fleischer rings in Wilson disease.
===HEENT===
* Corneal cystine crystals in Cystinosis.
* HEENT examination of patients with [disease name] is usually normal.
OR
* Abnormalities of the head/hair may include ___
* Evidence of trauma
* Icteric sclera
* [[Nystagmus]]
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*Ophthalmoscopic exam may be abnormal with findings of ___
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae


===Neck===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
* Neck examination of patients with Fanconi syndrome is usually normal.
OR
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]
 
===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
* Pulmonary examination of patients with Fanconi syndrome is usually normal.
OR
* Asymmetric chest expansion / Decreased chest expansion
*Lungs are hypo/hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds / Distant breath sounds
*Expiratory/inspiratory wheezing with normal / delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]
 
===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
* Cardiovascular examination of patients with Fanconi syndrome is usually normal.
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the otoscope
 
===Abdomen===
===Abdomen===
Abdominal examination of patients with [disease name] is usually normal.
Abdominal examination of patients with Fanconi syndrome is usually normal except for:
 
*[[Hepatomegaly]] seen in Fanconi–Bickel syndrome, Tyrosinemia, Galactosemia and Hereditary fructose intolerance.
OR
*Ascites seen in Tyrosinemia and Wilson disease.
*[[Abdominal distention]]
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test


===Back===
===Back===
* Back examination of patients with [disease name] is usually normal.
*Point tenderness over vertebrae and/or costovertebral angle tenderness might exist because of spontaneous fractures.
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
* Genitourinary examination of patients with Fanconi syndrome is usually normal, except for:
OR
* Hypogonadism in boys with Cystinosis.
*A pelvic/adnexal mass may be palpated
===Neuromuscular===
*Inflamed mucosa
* Neuromuscular examination of patients with Fanconi syndrome might include:
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
* Generalized muscular weakness
* Neuromuscular examination of patients with [disease name] is usually normal.
* bilateral lower extremity weakness presenting as walking difficulty<ref name="pmid133817352">{{cite journal| author=ENGLE RL, WALLIS LA| title=The adult Fanconi syndrome.  II.  Review of eighteen cases. | journal=Am J Med | year= 1957 | volume= 22 | issue= 1 | pages= 13-23 | pmid=13381735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13381735  }}</ref>
OR
* Psychomotor and mental retardation in LOWE syndrome, Wilson disease and Galactosomia.
*Patient is usually oriented to persons, place, and time
* Altered mental status
* Glasgow coma scale is ___ / 15
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
* [[Pitting edema]] in lower extremities might occur in severe [[Proteinuria]]/[[aminoaciduria]].
OR
 
*[[Clubbing]]  
*Muscle atrophy in severe forms of the disease.
*[[Cyanosis]]  
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
==References==

Latest revision as of 16:33, 21 July 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.

Overview

Physical examination of patients suffering from Fanconi syndrome, most likely relate to the underlying etiology of the syndrome as the clinical presentation of the disease mainly shows up with the symptoms patients are concerned about.

Nevertheless the most common physical examination findings in most cases of the disease include Growth retardation, short stature, weight loss and bony malformations[1][2].

Physical Examination

  • Physical examination of patients with Fanconi syndrome is usually remarkable for: Growth retardation,short stature, weight loss and bony malformations.

Appearance of the Patient

  • Patients with Fanconi syndrome usually appear weak with walking difficulty in adulthood and with growth failure and short stature in childhood.

Vital Signs

  • Vital signs of Fanconi syndrome patients are within normal limits except for probable mild "Tachycarida" in dehydrated patients.

Skin

HEENT

  • HEENT examination of patients with Fanconi syndrome is usually normal except for associated conditions of underlying genetic diseases leading to Fanconi syndrome, some of which are listed below:
  • Congenital cataracts in Galactosemia.
  • Deep set eyes, congenital cataracts, infantile glaucoma, corneal keloids, lens opacities, frontal bossing and full cheeks are found in LOWE syndrome cases[3].
  • Corneal Kayser–Fleischer rings in Wilson disease.
  • Corneal cystine crystals in Cystinosis.

Neck

  • Neck examination of patients with Fanconi syndrome is usually normal.

Lungs

  • Pulmonary examination of patients with Fanconi syndrome is usually normal.

Heart

  • Cardiovascular examination of patients with Fanconi syndrome is usually normal.

Abdomen

Abdominal examination of patients with Fanconi syndrome is usually normal except for:

  • Hepatomegaly seen in Fanconi–Bickel syndrome, Tyrosinemia, Galactosemia and Hereditary fructose intolerance.
  • Ascites seen in Tyrosinemia and Wilson disease.

Back

  • Point tenderness over vertebrae and/or costovertebral angle tenderness might exist because of spontaneous fractures.

Genitourinary

  • Genitourinary examination of patients with Fanconi syndrome is usually normal, except for:
  • Hypogonadism in boys with Cystinosis.

Neuromuscular

  • Neuromuscular examination of patients with Fanconi syndrome might include:
  • Generalized muscular weakness
  • bilateral lower extremity weakness presenting as walking difficulty[4]
  • Psychomotor and mental retardation in LOWE syndrome, Wilson disease and Galactosomia.

Extremities

  • Muscle atrophy in severe forms of the disease.

References

  1. ↑ ENGLE RL, WALLIS LA (1957). "The adult Fanconi syndrome. II. Review of eighteen cases". Am J Med. 22 (1): 13–23. PMID 13381735.
  2. ↑ Fanconi G. Der nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Deutsche Medizinische Wochenschrift 1936; 62: 1169–1171
  3. ↑ Lin T, Lewis RA, Nussbaum RL (1999). "Molecular confirmation of carriers for Lowe syndrome". Ophthalmology. 106 (1): 119–22. doi:10.1016/S0161-6420(99)90012-X. PMID 9917791.
  4. ↑ ENGLE RL, WALLIS LA (1957). "The adult Fanconi syndrome. II. Review of eighteen cases". Am J Med. 22 (1): 13–23. PMID 13381735.

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