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Fanconi-Like Syndrome

Presentation

The patient presents in infancy with failure to thrive, hepatosplenomegaly, and rickets. Neonatal presentation with hyperglycemia and polyuria has been reported. [emedicine.medscape.com]

The common age of presentation is 2 months to 1 year. [jmedicalcasereports.biomedcentral.com]

Inherited forms mainly present in childhood and may be due to genetic diseases including galactosemia, Wilson disease, cystinosis, Lowe syndrome, and hereditary fructose intolerance 1,2. [radiopaedia.org]

Additionally, valproic acid–induced Fanconi syndrome appears to be exclusive to children and usually abates on the discontinuation of the drug.17 Clinical Presentation Clinical presentations of Fanconi syndrome are due to various defects in proximal tubular [uspharmacist.com]

In this presentation, bony deformity consistent with rickets would be observed. The loss of water and electrolytes observed in this condition would cause thirst, fatigue, weakness, and polyuria. [ncbi.nlm.nih.gov]

Workup

Consultations It is best to consult with a nephrologist for further workup or treatment of Fanconi syndrome. Enhancing Healthcare Team Outcomes Etiologies of Fanconi syndrome are so varied that there is no clear path to management. [ncbi.nlm.nih.gov]

This child was initially treated as having X-linked hypophosphatemic rickets because of the loss of two male siblings with almost similar clinical presentation; however, with detailed workup this was excluded. [jmedicalcasereports.biomedcentral.com]

Microbiology

  • Streptococcus Pneumoniae

    Acquired Fanconi syndrome in patients with Legionella pneumonia. BMC Nephrol 2013;14:171. Koda R, Itoh R, Tsuchida M, Ohashi K, Iino N, Takada T, et al. Legionella pneumonia complicated with acquired Fanconi syndrome. [ejcrim.com]

Treatment

This is considered a treatment for the underlying disease, rather than a treatment for FS. Cystinosis treatment It’s important to start treatment as soon as possible for cystinosis. [healthline.com]

The patient’s clinical condition and biochemical anomalies improved following pneumococcus treatment. VIEW THE ENTIRE ARTICLE HTML PDF References Foreman JW. Fanconi syndrome. Pediatr Clin North Am 2019;66(1):159–167. Ali SA, Tariq M. [ejcrim.com]

You can control your symptoms and limit damage to your kidneys, muscles and bones with proper treatment. How is Fanconi syndrome treated? Treatment depends on the cause and severity of Fanconi syndrome. [my.clevelandclinic.org]

Several agents have been found to be effective in the treatment of children with Wilson disease. Prominent among the treatments is D-penicillamine. Prognosis mainly depends on the extent of damage incurred prior to the onset of therapy. [emedicine.medscape.com]

Metabolic acidosis in emergency medicine: treatment and medication. eMedicine. Updated November 13, 2009. http://emedicine.medscape.com/ 1994;23:188-122. 2002;27:318-319. article/768268--treatment. Accessed March 10, 2011. 21. [uspharmacist.com]

Prognosis

The prognosis depends on the underlying disease. Contact your health care provider if you have dehydration or muscle weakness. De Toni-Fanconi-Debré syndrome Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. [medlineplus.gov]

Prognosis mainly depends on the extent of damage incurred prior to the onset of therapy. [emedicine.medscape.com]

With early and appropriate treatment, the overall prognosis is very good, and survival to adulthood is favorable [10]. [jmedicalcasereports.biomedcentral.com]

Outlook / Prognosis What can I expect if I have Fanconi syndrome? Healthcare providers and medical researchers know more about Fanconi syndrome and how to treat it now than they did just a few years ago. [my.clevelandclinic.org]

Patient prognosis is dependent upon the cause of the syndrome and the severity of renal and extrarenal manifestations. [uspharmacist.com]

Etiology

The ability to treat the condition depends on its particular etiology and typically involves addressing the underlying cause, if one exists, and correcting volumetric, nutritional, or electrolytic deficiencies. [ncbi.nlm.nih.gov]

The age of those affected varies because the etiology is diverse. If the disease was acquired from medications, metal toxicity, or exposure to other noxious agents, it can present itself at any age. [uspharmacist.com]

Epidemiology

Honeybee stings can also give rise to Fanconi syndrome.[2] Legionella pneumonia may also cause Fanconi syndrome for unknown reasons.[3] Epidemiology It is difficult to assess the epidemiology of Fanconi syndrome as it encompasses a wide variety of acquired [ncbi.nlm.nih.gov]

Epidemiology and Pathophysiology Fanconi syndrome is a rare disease with sporadic incidence and reporting of newly diagnosed cases.4 Fanconi syndrome may be caused by inherited, acquired, or exogenous factors (TABLE 1).5 Its morbidity is secondary to [uspharmacist.com]

Division of Blood and Marrow Transplantation, Director, Stem Cell Institute, Edmund Wallace Tulloch and Anna Marie Tulloch Chair in Stem Cell Biology, Genetics and Genomics, and Blanche P Alter, MD, MPH, FAAP, Clinical Genetics Branch, Division of Cancer Epidemiology [rarediseases.org]

Pathophysiology

Effectively diagnosing and treating patients is a concern because of the limited information available regarding the pathophysiology of the disease. [uspharmacist.com]

Pathophysiology Several mechanisms can cause Fanconi syndrome, some of which may not be fully known. [ncbi.nlm.nih.gov]

The underlying pathophysiological mechanism of salicylate-induced proximal tubular dysfunction is not well characterized. [termedia.pl]

Pathophysiology and Management of Inherited Bone Marrow Failure Syndromes. Blood Reviews. 2010;24:101-122. Moldovan G-L and D’Andrea AD. How the Fanconi Anemia Pathway Guards the Genome. Annual Review of Genetics. 2009;43: 223-249. [rarediseases.org]

Prevention

Prevention How can I prevent Fanconi syndrome? You can help prevent acquired Fanconi syndrome by: Avoiding exposure to lead. Discussing herbal supplements with a healthcare provider. [my.clevelandclinic.org]

The role of aspirin in cardiovascular prevention: implications of aspirin resistance. J Am Coll Cardiol 2008; 51: 1829-43. 4. Temple AR. Acute and chronic effects of aspirin toxicity and their treatment. Arch Intern Med 1981; 141: 364-9. 5. [termedia.pl]

Advising parents to prevent their children from exposure to lead and avoiding outdated antibiotics is an important part of child care. [uspharmacist.com]

Related: Conference reports, Side effects, HIV prevention and transmission, Lipodystrophy Workshop (IWADRH) 18 New York 2016. [i-base.info]

The same transport also reabsorbs toxic cations (cadmium, lead, cobalt, nickel and platinum).5 Trace elements like iron, cobalt and zinc should be used in treatment to minimise kidney damage and to saturate the transport and prevent the absorption of [revistanefrologia.com]

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