Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation

PCT is the most common porphyria in adults, 16 cases of infantil Porphyria Cutanea Tarda (PCT) were studied in our institute. They represent 28% of the total number of cases described so far in the international literature and 3% of adult, PCT patients seen in our institute during the last 20 years....

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Autores principales: Guolo, M., Stella, A.M., Pierini, A., Del Batlle, C.A.M.
Formato: JOUR
Materias:
chloroquine
iron
phenobarbital
porphyrin
s adenosylmethionine
uroporphyrinogen decarboxylase
article
blood analysis
case report
erythrocyte
family
female
hemodialysis
human
hypertrichosis
kidney transplantation
oral drug administration
photosensitivity
porphyria cutanea tarda
school child
urinalysis
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_03252787_v76_n4_p247_Guolo
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires
id todo:paper_03252787_v76_n4_p247_Guolo
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spelling todo:paper_03252787_v76_n4_p247_Guolo2023-10-03T15:23:23Z Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation Guolo, M. Stella, A.M. Pierini, A. Del Batlle, C.A.M. chloroquine iron phenobarbital porphyrin s adenosylmethionine uroporphyrinogen decarboxylase article blood analysis case report erythrocyte family female hemodialysis human hypertrichosis kidney transplantation oral drug administration photosensitivity porphyria cutanea tarda school child urinalysis PCT is the most common porphyria in adults, 16 cases of infantil Porphyria Cutanea Tarda (PCT) were studied in our institute. They represent 28% of the total number of cases described so far in the international literature and 3% of adult, PCT patients seen in our institute during the last 20 years. Biochemical data of a new case of infantil PCT (C.A., 9 years, female) and her family are presented. In a kidney transplanted 9 years-old girl with photosensitivity and hypertrichosis, the diagnosis of familial PCT was confirmed by the increase and characteristic pattern of urinary porphyrin excretion, diminished erythrocyte uroporphyrinogen decarboxylase (URO-D) and elevated plasma porphyrin index with maximal emission at 617-618 mm. URO-D was reduced to approximately 50% of normal in the child and in her sister; who did not exhibit clinical symptoms. The typical prophyrin urinary pattern of PCT was found in her asymptomatic father and it was normal in her mother and brother. The girl was undergoing hemodialysis since the age of 5. On April, 25th, 1990, at the age of 6, she was transplanted. One month later developed cutaneous fragility, hypertrichosis in the malar regions, blisters, crusts and scars on the dorsal of the hands and hyperpigmentation on the exposed areas. Pharmacos given for her extra corporeal dialysis (Ferrum) and transplantation (phenobarbital) have been very likely the triggering factors of her porphyria. Treatment with S-adenosyl-L-methionine (30 mg/kg/day) and low dose of oral chloroquine (2 x 100 mg) for only one week lead to clinical and biochemical improvement after 210 days. Fil:Guolo, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Stella, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Del Batlle, C.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_03252787_v76_n4_p247_Guolo
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic chloroquine
iron
phenobarbital
porphyrin
s adenosylmethionine
uroporphyrinogen decarboxylase
article
blood analysis
case report
erythrocyte
family
female
hemodialysis
human
hypertrichosis
kidney transplantation
oral drug administration
photosensitivity
porphyria cutanea tarda
school child
urinalysis
spellingShingle chloroquine
iron
phenobarbital
porphyrin
s adenosylmethionine
uroporphyrinogen decarboxylase
article
blood analysis
case report
erythrocyte
family
female
hemodialysis
human
hypertrichosis
kidney transplantation
oral drug administration
photosensitivity
porphyria cutanea tarda
school child
urinalysis
Guolo, M.
Stella, A.M.
Pierini, A.
Del Batlle, C.A.M.
Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation
topic_facet chloroquine
iron
phenobarbital
porphyrin
s adenosylmethionine
uroporphyrinogen decarboxylase
article
blood analysis
case report
erythrocyte
family
female
hemodialysis
human
hypertrichosis
kidney transplantation
oral drug administration
photosensitivity
porphyria cutanea tarda
school child
urinalysis
description PCT is the most common porphyria in adults, 16 cases of infantil Porphyria Cutanea Tarda (PCT) were studied in our institute. They represent 28% of the total number of cases described so far in the international literature and 3% of adult, PCT patients seen in our institute during the last 20 years. Biochemical data of a new case of infantil PCT (C.A., 9 years, female) and her family are presented. In a kidney transplanted 9 years-old girl with photosensitivity and hypertrichosis, the diagnosis of familial PCT was confirmed by the increase and characteristic pattern of urinary porphyrin excretion, diminished erythrocyte uroporphyrinogen decarboxylase (URO-D) and elevated plasma porphyrin index with maximal emission at 617-618 mm. URO-D was reduced to approximately 50% of normal in the child and in her sister; who did not exhibit clinical symptoms. The typical prophyrin urinary pattern of PCT was found in her asymptomatic father and it was normal in her mother and brother. The girl was undergoing hemodialysis since the age of 5. On April, 25th, 1990, at the age of 6, she was transplanted. One month later developed cutaneous fragility, hypertrichosis in the malar regions, blisters, crusts and scars on the dorsal of the hands and hyperpigmentation on the exposed areas. Pharmacos given for her extra corporeal dialysis (Ferrum) and transplantation (phenobarbital) have been very likely the triggering factors of her porphyria. Treatment with S-adenosyl-L-methionine (30 mg/kg/day) and low dose of oral chloroquine (2 x 100 mg) for only one week lead to clinical and biochemical improvement after 210 days.
format JOUR
author Guolo, M.
Stella, A.M.
Pierini, A.
Del Batlle, C.A.M.
author_facet Guolo, M.
Stella, A.M.
Pierini, A.
Del Batlle, C.A.M.
author_sort Guolo, M.
title Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation
title_short Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation
title_full Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation
title_fullStr Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation
title_full_unstemmed Infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation
title_sort infantile porphyria cutanea tarda in a 9-year-old girl after kidney transplantation
url http://hdl.handle.net/20.500.12110/paper_03252787_v76_n4_p247_Guolo
work_keys_str_mv AT guolom infantileporphyriacutaneatardaina9yearoldgirlafterkidneytransplantation
AT stellaam infantileporphyriacutaneatardaina9yearoldgirlafterkidneytransplantation
AT pierinia infantileporphyriacutaneatardaina9yearoldgirlafterkidneytransplantation
AT delbatllecam infantileporphyriacutaneatardaina9yearoldgirlafterkidneytransplantation
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