Fanconi Syndrome Follow-up

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Follow-up

Further Outpatient Care

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  • Closely monitor all patients with Fanconi syndrome, independent of etiology or pathogenesis. Frequency of the patient's visits depends on various factors, including the severity of the syndrome, the ability to maintain fluid and electrolyte balance, the degree of involvement of other organs, and the need for monitoring the effects and side effects of specific medications.

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Deterrence/Prevention

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  • Some of the secondary forms of Fanconi syndrome may be limited by preventing exposure to toxins such as lead and outdated tetracyclines and aminoglycosides. Eliminating lactose from the diet in children with galactosemia and tyrosine/phenylalanine from the diet in children with tyrosinemia helps alleviate the symptoms in some of the primary forms of Fanconi syndrome.

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Prognosis

Prognosis varies and depends on the cause of the syndrome and the severity of the renal and extrarenal manifestations. As a general rule, the acquired forms of Fanconi syndrome are limited in time and in consequences. The inherited forms are difficult to manage, are usually associated with disturbances in growth, and are involved with specific organs.

  • Cystinosis may result in chronic renal failure, visual impairment, hypothyroidism, progressive neurologic disorders, and generalized myopathy. Patients with nephropathic cystinosis who have been well-treated with cysteamine have an excellent clinical outcome, illustrating the critical importance of early diagnosis and treatment. Despite a substantial improvement in prognosis due to cystine-depleting therapy, no cure of the disease is currently available. Kidney Disease: Improving Global Outcome (KDIGO) has recently reviewed cystinosis state-of-the-art knowledge and areas of controversies in pathophysiology, diagnostics, monitoring and treatment in different age groups and most importantly, promising areas of investigation/research that may lead optimal outcome in these patients. [25]

  • Galactosemia, even when galactose is eliminated early from the diet, results in developmental delays, speech impairment, and ovarian dysfunction.

  • Tyrosinemia leads to chronic liver failure and the development of hepatomas. Liver transplantation has been successfully performed in such cases.

  • Wilson disease, when not diagnosed and treated early, may result in neurologic and psychiatric disorders, chronic active hepatitis, and acute hemolytic crises. Liver transplantation has been successfully performed in patients with hepatic failure.

  • Congenital cataracts or glaucoma, mental retardation, hypotonia, and kidney abnormalities that can lead to chronic renal failure and end-stage renal disease in adulthood characterize Lowe syndrome.

  • Idiopathic Fanconi syndrome may result in chronic renal failure during adolescence or adulthood.

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Patient Education

All parents should receive counseling on prevention of lead exposure and avoidance of outdated antibiotics as part of routine well-child care.

  • Parents of children with the primary forms of Fanconi syndrome should receive genetic counseling to explain the patterns of inheritance and advise on the risks of recurrence of the syndromes in subsequent pregnancies.

  • Parents of children with Fanconi syndrome secondary to galactosemia or tyrosinemia should receive detailed dietary instructions to eliminate the specific untolerated nutrients from the diet.

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