eMedicine Specialties > Dermatology > Pediatric Diseases
Hartnup Disease: Follow-up
Updated: Feb 6, 2009
Follow-up
Further Outpatient Care
- Advise patients to use protection from sunlight, to avoid other aggravating factors, to consume a high-protein diet, and to take daily supplements of nicotinic acid.
- In patients who are symptomatic, recommend regular follow-up examinations, depending on the severity of symptoms and the organ systems involved.
Inpatient & Outpatient Medications
- Patients should continue taking daily supplements of nicotinic acid.
Deterrence/Prevention
Deterrence and prevention are as follows19,20 :
- Because sun exposure can exacerbate Hartnup disease, advise patients to protect themselves from sunlight.
- Because aggravating factors, such as sulfonamides and possibly emotional stress, can exacerbate Hartnup disease, advise patients to avoid these factors.
Complications
Complications are as follows3,17,26 :
- Severe CNS involvement may rarely lead to death in the first years of life.
- Psychotic episodes and delirium are described in a minority of patients.
- Mild mental retardation is described in only a few patients.
- Long-lasting hypopigmentation and/or hyperpigmentation of the skin are seen with repeated exposures to sunlight, which should be avoided by using proper photoprotection.
Prognosis
- Attacks become less frequent with increasing age.18
Patient Education
- Educate patients to protect themselves from sunlight, to avoid other aggravating factors, and to consume a high-protein diet.
Miscellaneous
Medicolegal Pitfalls
- Failure to diagnose and to treat Hartnup disease because of the wide clinical spectrum of the disease, especially in patients with mild skin involvement, is a pitfall.
- Failure to advise patients regarding adequate protein intake and niacin supplementation, without which remission cannot be achieved, is a pitfall.
Special Concerns
- Maternal Hartnup disease does not influence the outcome of pregnancy. Placental transport of free amino acids may not be reduced in maternal Hartnup disorder.28
The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.
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References
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Further Reading
Keywords
Hartnup disease, Hartnup disorder, Hartnup aminoaciduria, Hartnup syndrome, MIM #234500, Mendelian Inheritance in Man #234500
Follow-up: Hartnup Disease