Fanconi syndrome

Source: Wikipedia, the free encyclopedia.
Not to be confused with Fanconi anemia.
Fanconi syndrome
Other namesFanconi's syndrome
SpecialtyNephrology, endocrinology Edit this on Wikidata

Fanconi syndrome or Fanconi's syndrome (English:

proximal straight tubule (pars recta), which leads to the descending limb of loop of Henle.[citation needed
]

Different forms of Fanconi syndrome can affect different functions of the proximal tubule, and result in different

bone development in children and even for ongoing bone metabolism in adults.[3]

Presentation

Main article: renal tubular acidosis

The clinical features of proximal renal tubular acidosis are:[citation needed]

Other features of the generalized proximal tubular dysfunction of the Fanconi syndrome are:[citation needed]

Causes

In contrast to Hartnup disease and related tubular conditions, Fanconi syndrome affects the transport of many different substances, so is not considered to be a defect in a specific channel, but a more general defect in the function of the proximal tubules.[4]

Different diseases underlie Fanconi syndrome; they can be

congenital
, or acquired.

Inherited

Cystinosis is the most common cause of Fanconi syndrome in children.[citation needed]

Other recognised causes are

glycogen storage diseases, and hereditary fructose intolerance
.

Two forms,

X linked.[6]

A recently described form of this disease is due to a mutation in the peroxisomal protein EHHADH.[7] This mutation misdirects the EHHADH to the mitochondria. This interferes with respiratory complex I and with beta oxidation of fatty acids. The result is a decrease in the ability of the mitochondria to produce ATP.[citation needed]

It was shown that a specific mutation (R76W) of

HNF4A, a gene encoding a transcription factor, causes Fanconi syndrome in human.[8] In the kidney, HNF4A is expressed in the proximal tubules specifically.[9] Deletion of Hnf4a in the developing mouse kidney caused Fanconi syndrome phenotypes including polyruia, polydipsia, glycosuria, and phosphaturia.[10] The Hnf4a mutant kidney showed a defect in the formation of proximal tubules.[10]

Acquired

It is possible to acquire this disease later in life.

Causes include ingesting expired

tenofovir and didanosine.[13]
Lead poisoning also leads to Fanconi syndrome.[14]

Multiple myeloma or monoclonal gammopathy of undetermined significance can also cause the condition.[15]

Additionally, Fanconi syndrome can develop as a secondary or tertiary effect of certain autoimmune disorders.[16][17]

Diagnosis

Urine routine, might not be completely reliable but is an important indicator.[citation needed]

Treatment

Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate).[citation needed]

Eponym

It is named after

pediatrician, although various other scientists, including George Lignac, contributed to its study.[when?] It should not be confused with Fanconi anemia, a separate disease.[citation needed
]

See also

References

  1. ^ "Fanconi syndrome" at Dorland's Medical Dictionary
  2. ^ Fanconi Syndrome at Merck Manual Home Health Handbook
  3. PMID 20335586
    .
  4. ^ Fanconi Syndrome at eMedicine
  5. PMID 19156444
    .
  6. PMID 17494094
    .
  7. PMID 27160910
    .
  8. PMID 24285859
    .
  9. PMID 25817355
    .
  10. ^
    PMID 30046000
    .
  11. ^ Viread Label Information,
    U.S. Food and Drug Administration
    (FDA), 2008-04-11
  12. ^ Tenofovir (Viread) Associated with Mild Kidney Function Impairment, but not Clinically Relevant Renal Disease, hivandhepatitis.com, 2008-10-14
  13. PMID 19334328
    .
  14. PMID 15722646
    .
  15. PMID 17329920
    .
  16. ^ "Fanconi Syndrome". The Medical Dictionary.
  17. PMID 16792139
    .

External links
Retrieved from "https://en.wikipedia.org/w/index.php?title=Fanconi_syndrome&oldid=1197603469"