Antenatal nephromegaly and propionic acidemia: a case report
نویسندگان
چکیده
منابع مشابه
Antenatal nephromegaly and propionic acidemia: a case report
BACKGROUND Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. CASE PRESENTATION We report the case o...
متن کاملOptic neuropathy in methylmalonic acidemia and propionic acidemia.
BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...
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Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by deficient activity of the mitochondrial enzyme propionyl-CoA carboxylase. The clinical manifestations are metabolic acidosis, poor feeding, lethargy, vomiting, osteoporosis, neurological dysfunction, pancytopenia, developmental retardation and cardiomyopathy. Liver transplantation has recently been considered...
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1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...
متن کاملNatural history of propionic acidemia.
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...
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ژورنال
عنوان ژورنال: BMC Nephrology
سال: 2017
ISSN: 1471-2369
DOI: 10.1186/s12882-017-0535-4