The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Kölker Stefan, Valayannopoulos Vassili, Burlina Alberto B, Sykut-Cegielska Jolanta, Wijburg Frits A, Teles Elisa Leão, Zeman Jiri, Dionisi-Vici Carlo, Barić Ivo, Karall Daniela, Arnoux Jean-Baptiste, Avram Paula, Baumgartner Matthias R, Blasco-Alonso Javier, Boy S P Nikolas, Rasmussen Marlene Bøgehus, Burgard Peter, Chabrol Brigitte, Chakrapani Anupam, Chapman Kimberly, Cortès I Saladelafont Elisenda, Couce Maria L, de Meirleir Linda, Dobbelaere Dries, Furlan Francesca, Gleich Florian, González Maria Julieta, Gradowska Wanda, Grünewald Stephanie, Honzik Tomas, Hörster Friederike, Ioannou Hariklea, Jalan Anil, Häberle Johannes, Haege Gisela, Langereis Eveline, de Lonlay Pascale, Martinelli Diego, Matsumoto Shirou, Mühlhausen Chris, Murphy Elaine, de Baulny Hélène Ogier, Ortez Carlos, Pedrón Consuelo C, Pintos-Morell Guillem, Pena-Quintana Luis, Ramadža Danijela Petković, Rodrigues Esmeralda, Scholl-Bürgi Sabine, Sokal Etienne, Summar Marshall L, Thompson Nicholas, Vara Roshni, Pinera Inmaculada Vives, Walter John H, Williams Monique, Lund Allan M, Garcia-Cazorla Angeles
Аннотация
AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.
RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population.
CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.