PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Photosensitivity Disorders”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 541 records · Page 30Linked to original sources
PubMed1993

[Often unrecognized: erythropoietic protoporphyria].

Erythropoietic protoporphyria is an autosomal dominant hereditary disorder with irregular penetrance. Recently, the first molecular DNA defects have been published. Various courses the disease may take are illustrated by three cases. The main symptom is photosensitivity, usually beginning in early childhood. Development of gallstones at an early age is one possible complication. Terminal liver failure, a rare but fatal complication, is due to intrahepatic protoporphyrin deposition and is treatable by liver transplantation only. Possible treatment schemes for photosensitivity and for liver involvement are discussed.

Adult↗
PubMed1992

Cytofluorometry as a diagnosis of protoporphyria.

Protoporphyria is a disorder that usually has cutaneous symptoms. Only in a few cases liver disease develops, invariably progressing to cirrhosis and liver failure. A case of a patient who suffered from photosensitivity as a result of protoporphyria since the age of 2 is described. At age 33, she first presented with cholestatic hepatitis. At age 40, liver failure developed requiring liver transplantation. Quantitative cytofluorometry proved to be a quick and simple method in the follow-up of her erythrocyte protoporphyrin levels before, during, and after transplantation. Fluorescence correlated well with the protoporphyrin levels obtained by high-performance liquid chromatography (r = 0.98), a comparably cumbersome and complicated method for the determination of protoporphyrin. In addition, single cell analysis enabled us to follow the effects of transfusion therapy on protoporphyrin levels of the patient's own erythrocytes, which has not been possible by previous methods. Thus, cytofluorometry might prove to be elegant and useful for screening and future studies on therapy and pathophysiology of protoporphyria.

Adult↗