ABSTRACT
Las glucogenosis son enfermedades hereditarias del metabolismo del glucógeno. Se reconocen más de 12 tipos y afectan principalmente al hígado y al músculo, mismas que se clasifican según la enzima defectuosa y el órgano afectado. Presentamos el caso de un niño de 4 años y 6 meses con hepatomegalia importante, retardo del crecimiento pondoestatural, extremidades delgadas, facies con mejillas redondas. Sus exámenes laboratoriales revelaron: hipoglicemia, hiperlipidemia, hiperuricemia y sus estudios imagenológicos evidenciaron hepatomegalia difusa severa. El estudio histopatológico concluyó con glucogenosis, no pudiendo definirse el tipo, por la imposibilidad de realizar pruebas específicas de histoquímica en Bolivia. El paciente es seguido por consulta externa, bajo indicaciones dietéticas para prevenir complicaciones.
Glycogen storage diseases are inherited metabolic disorders of glycogen metabolism. There are over 12 types, they may affect primarily the liver and muscle. They are classified and the affected tissue. The case of a 4 y 6m old-male infant is presented, with growth retardation, thin limbs, rounded cheeks. Laboratory testing showed hypoglycemia, hyperlipidermia, hyperuricemia. Imagenoly testing showed severe diffuse hepatomegaly. Histopathology concluded in glycogen storage disease, the enzyme deficiency could not be established because of the unavailability of these test in Bolivia. The patient is followed by consult, diet therapy to prevent complications.
Subject(s)
Humans , Child, Preschool , Liver Glycogen , Biopsy/instrumentation , Hypoglycemia/diagnosisABSTRACT
La enfermedad de von Gierke, también conocida como enfermedad de deposito de glucógeno tipo Ia, es una enfermedad producida por la deficiencia de la unidad catalítica de la G6Pasa-a, encargada de hidrolizar la glucosa 6 fosfato en el citoplasma celular durante la gluconeogénesis y la glucogenolisis. Las complicaciones a largo plazo son hipoglicemia severa y alteraciones en el crecimiento. En los niños más pequeños la enfermedad típicamente se presenta con crisis convulsivas y hepatomegalia que se manifiestan a los 6 y 8 meses. Otras complicaciones son osteoporosis, gota, enfermedad renal, hipertensión pulmonar y adenomas hepáticos que pueden malignizarse. No se ha encontrado una cura y de no recibir un manejo adecuado es letal en las primeras dos décadas de la vida. El tratamiento consiste en terapia nutricional, asociada a varios medicamentos convencionales. Algunos pacientes pueden requerir transplante renal o transplante hepático. Una nueva esperanza se ha abierto con el advenimiento de la terapia génica con vectores virales, esta estrategia hasta ahora esta siendo desarrollada, pero los estudios realizados han mostrado una luz de esperanza para investigadores, médicos y pacientes. Faltan estudios para que estos tratamientos permitan un beneficio a largo plazo y su aplicación en humanos, ya que las pruebas como es de esperarse solo han sido desarrolladas en modelos animales.
Von Gierke disease, also known as glycogen storage disease type Ia, is a disease caused by deficiency of the G6Pase-a catalytic unit, which hydrolyzes glucose-6- phosphate in the cell cytoplasm during gluconeogenesis and glycogenolysis. Long term complications include severe hypoglycemia and growth disturbances. In small children, the disease typically presents with seizure crisis and hepatomegaly which become manifest at the age of 6 and 8 months. Other complications include osteoporosis, gout, renal disease, pulmonary hypertension and hepatic adenomas which can become malignant. No cure has been found for this disease and it can turn out to be lethal if no appropriate management is given during the first two decades of life. The treatment consists of nutritional therapy associated with a number of conventional drugs. Some patients may require renal or liver transplant. A new hope has emerged with the arrival of gene therapy with viral vectors, strategy that is being developed hitherto, yet performed studies have shown a glimmer of hope for investigators, doctors and patients. There is a need for studies so these treatments allow for a longer term benefit and their application in humans since, as expected, the tests have been developed only in animal models.
A doença de Von Gierke, também conhecida como Glicogenose tipo I, é uma doença produzida pela deficiência da unidade catalítica da G6Pasa-a, encarregada de hidrolisar a glicose 6 fosfato no citoplasma celular durante a gliconeogênese e a glicogenólise. As complicações a longo prazo são hipoglicemia severa e alterações no crescimento. Nas crianças menores a doença se apresenta tipicamente com crises convulsivas e hepatomegalia que se manifestam aos 6 e 8 meses. Outras complicações são osteoporose, gota, doença renal, hipertensão pulmonar e adenomas hepáticos que podem malignizar-se. Não foi encontrada uma cura e se não recebe tratamento adequado é letal nas primeiras duas décadas de vida. O tratamento consiste em terapia nutricional, associada a vários medicamentos convencionais. Alguns pacientes podem requerer transplante renal ou transplante hepático. Uma nova esperança apareceu com a terapia gênica com vetores virais, esta estratégia até agora esta sendo desenvolvida, mas os estudos realizados mostram uma luz de esperança para pesquisadores, médicos e pacientes. Faltam estudos para que estes tratamentos permitam um beneficio a longo prazo e a sua aplicação em humanos, já que os testes como é de se esperar só foram desenvolvidos em modelos animais.
Subject(s)
Humans , Child , Glycogen Storage Disease Type I , Genetic Therapy , Carcinoma, Hepatocellular , GlycogenABSTRACT
Glycogen storage diseases (GSD) are inherited autosomal recessive disorder.Type-IGSD(Von Gierkes disease) is due to glucose- 6-phosphatase defect, which mainly affects liver and is life threatening if not treated. The main features are fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Here we present a case of six month female baby who presented with fever, abdominal distension and on investigation biochemical parameters were suggestive of type-I GSD.
Subject(s)
Glucose-6-Phosphatase , Glycogen Storage Disease Type I/diagnosis , Humans , Hypoglycemia/etiology , Hyperlipidemias/etiology , Hyperuricemia/etiologyABSTRACT
Molecular diagnosis of Von Gierke disease is possible by mutation analysis of G6PC gene. GSD type 1a cases account for 20 % of glycogenoses in our center. We diagnosed ten unrelated patients with glycogen storage disease based on clinical, biochemical and histopathology investigations. Mutation analysis was done by sequencing the G6PC gene. Two unrelated patients were found to be homozygous for a novel mutation c.355 C>G (p.H119D). They were born to non-consanguineous parents from Karnataka. This suggests founder effect. Mutation detection confirms the diagnosis and assists in counseling and prenatal diagnosis.
ABSTRACT
von Gierke disease (type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia, and platelets dysfunction. We experienced a case of von Gierke disease in 6 month-old boy with doll face, hepatomegaly, fasting hypoglycemia, acidosis, anemia, hyperlipidemia, hyperuricemia, and acetonuria. Diagnosis was confirmed by light- and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Cornstarch dietary therapy for him had favorable responses showing improvement of hypoglycemia, other metabolic derangements, and regression of hepatomegaly.
Subject(s)
Humans , Infant , Male , Acidosis , Anemia , Biopsy , Diagnosis , Erythrocytes , Glucose-6-Phosphatase , Glycogen , Glycogen Storage Disease Type I , Hemorrhage , Hepatocytes , Hepatomegaly , Hyperlipidemias , Hyperuricemia , Hypoglycemia , Intestines , Ketosis , Kidney , Liver , StarchABSTRACT
von Gierke disease (type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia, and platelets dysfunction. We experienced a case of von Gierke disease in 6 month-old boy with doll face, hepatomegaly, fasting hypoglycemia, acidosis, anemia, hyperlipidemia, hyperuricemia, and acetonuria. Diagnosis was confirmed by light- and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Cornstarch dietary therapy for him had favorable responses showing improvement of hypoglycemia, other metabolic derangements, and regression of hepatomegaly.