Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda
1. 1. A family investigation was performed in eleven cases of Porphyria Cutanea Tarda (PCT). 2. 2. By using clinical findings, quantitative measurements and thin layer chromatography (TLC) of urinary porphyrins, overt and subclinical PCT patients have been identified. 3. 3. In the overt type, skin m...
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todo:paper_0020711X_v12_n5-6_p873_Magnin2023-10-03T14:17:45Z Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda Magnin, P.H. de Xifra, E.A.W. Lenczner, M. Stella, A.M. del C. Batlle, A.M. porphyrin acute disease adolescent adult article child chronic disease female genetics human male pedigree porphyria preschool child skin disease thin layer chromatography urine Acute Disease Adolescent Adult Child Child, Preschool Chromatography, Thin Layer Chronic Disease Female Human Male Middle Age Pedigree Porphyria Porphyrins Skin Diseases Support, Non-U.S. Gov't 1. 1. A family investigation was performed in eleven cases of Porphyria Cutanea Tarda (PCT). 2. 2. By using clinical findings, quantitative measurements and thin layer chromatography (TLC) of urinary porphyrins, overt and subclinical PCT patients have been identified. 3. 3. In the overt type, skin manifestations are present, excretion of urinary porphyrins is increased and the TLC pattern of porphyrins in urine is characteristic for PCT. 4. 4. In the subclinical type, patients have no clinical symptoms, excretion of porphyrins in urine might be normal or enhanced and TLC pattern of urinary porphyrins is typical for PCT. 5. 5. By applying these criteria a clear distinction between hereditary and non-hereditary PCT was possible. 6. 6. Among the 11 families studied, in four families where PCT was hereditary, four members have the overt type and ten relatives the subclinical type. 7. 7. In seven families where PCT was non-hereditary only the propositus has overt PCT and not a single relative showed any clinical or biochemical abnormality. © 1980. Fil:Stella, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:del C. Batlle, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_0020711X_v12_n5-6_p873_Magnin |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
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R-134 |
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Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
porphyrin acute disease adolescent adult article child chronic disease female genetics human male pedigree porphyria preschool child skin disease thin layer chromatography urine Acute Disease Adolescent Adult Child Child, Preschool Chromatography, Thin Layer Chronic Disease Female Human Male Middle Age Pedigree Porphyria Porphyrins Skin Diseases Support, Non-U.S. Gov't |
| spellingShingle |
porphyrin acute disease adolescent adult article child chronic disease female genetics human male pedigree porphyria preschool child skin disease thin layer chromatography urine Acute Disease Adolescent Adult Child Child, Preschool Chromatography, Thin Layer Chronic Disease Female Human Male Middle Age Pedigree Porphyria Porphyrins Skin Diseases Support, Non-U.S. Gov't Magnin, P.H. de Xifra, E.A.W. Lenczner, M. Stella, A.M. del C. Batlle, A.M. Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda |
| topic_facet |
porphyrin acute disease adolescent adult article child chronic disease female genetics human male pedigree porphyria preschool child skin disease thin layer chromatography urine Acute Disease Adolescent Adult Child Child, Preschool Chromatography, Thin Layer Chronic Disease Female Human Male Middle Age Pedigree Porphyria Porphyrins Skin Diseases Support, Non-U.S. Gov't |
| description |
1. 1. A family investigation was performed in eleven cases of Porphyria Cutanea Tarda (PCT). 2. 2. By using clinical findings, quantitative measurements and thin layer chromatography (TLC) of urinary porphyrins, overt and subclinical PCT patients have been identified. 3. 3. In the overt type, skin manifestations are present, excretion of urinary porphyrins is increased and the TLC pattern of porphyrins in urine is characteristic for PCT. 4. 4. In the subclinical type, patients have no clinical symptoms, excretion of porphyrins in urine might be normal or enhanced and TLC pattern of urinary porphyrins is typical for PCT. 5. 5. By applying these criteria a clear distinction between hereditary and non-hereditary PCT was possible. 6. 6. Among the 11 families studied, in four families where PCT was hereditary, four members have the overt type and ten relatives the subclinical type. 7. 7. In seven families where PCT was non-hereditary only the propositus has overt PCT and not a single relative showed any clinical or biochemical abnormality. © 1980. |
| format |
JOUR |
| author |
Magnin, P.H. de Xifra, E.A.W. Lenczner, M. Stella, A.M. del C. Batlle, A.M. |
| author_facet |
Magnin, P.H. de Xifra, E.A.W. Lenczner, M. Stella, A.M. del C. Batlle, A.M. |
| author_sort |
Magnin, P.H. |
| title |
Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda |
| title_short |
Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda |
| title_full |
Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda |
| title_fullStr |
Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda |
| title_full_unstemmed |
Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda |
| title_sort |
studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda |
| url |
http://hdl.handle.net/20.500.12110/paper_0020711X_v12_n5-6_p873_Magnin |
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