Fanconi syndrome physical examination: Difference between revisions

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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.  
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.
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>.


==Physical Examination==
==Physical Examination==
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===Skin===
===Skin===
* Skin examination of patients with Fanconi syndrome is essentially normal.
* Skin examination of patients with Fanconi syndrome is essentially normal.
* [[Jaundice]] might be seen in the context of Galactosomia, Hereditary fructose intolerance, Wilson disease and Tyrosinemia.
* [[Jaundice]] might be seen in the context of [[Galactosemia]], [[Hereditary fructose intolerance]], [[Wilson's disease|Wilson disease]] and [[Tyrosinemia]].
* Skin cysts might be presented in cases with LOWE syndrome.
* Skin cysts might be presented in cases with [[Oculocerebrorenal syndrome|LOWE syndrome]].
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===HEENT===
===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:
* 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.
* 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.
* 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.
* Corneal Kayser–Fleischer rings in Wilson disease.
* Corneal cystine crystals in Cystinosis.
* Corneal cystine crystals in Cystinosis.


===Neck===
===Neck===
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===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal, except for:
* Genitourinary examination of patients with Fanconi syndrome is usually normal, except for:
* Hypogonadism in boys with Cystinosis.
* Hypogonadism in boys with Cystinosis.
===Neuromuscular===
===Neuromuscular===
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* Generalized muscular weakness
* Generalized muscular weakness
* bilateral lower extremity weakness presenting as walking difficulty
* 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>
* Psychomotor and mental retardation in LOWE syndrome, Wilson disease and Galactosomia.
* Psychomotor and mental retardation in LOWE syndrome, Wilson disease and Galactosomia.


===Extremities===
===Extremities===
* Pitting edema in lower extremities might occur in severe Proteinuria/amonoaciduria.
* [[Pitting edema]] in lower extremities might occur in severe [[Proteinuria]]/[[aminoaciduria]].


*Muscle atrophy in severe forms of the disease.
*Muscle atrophy in severe forms of the disease.

Revision as of 04:10, 17 June 2018

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

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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