Childhood myocerebrohepatopathy spectrum
Última atualização 18 de ago de 2020
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-).
Descrição
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-).
Common signs and symptoms of MCHS include muscle weakness (myopathy), developmental delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain weight and grow at the expected rate (failure to thrive).
Additional signs and symptoms of MCHS can include a form of kidney disease called renal tubular acidosis, inflammation of the pancreas (pancreatitis), recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
MCHS
Related patient information and medicines
Patient information leaflet
Bebês prematuros
Across the world, more than one in ten babies are born prematurely. What are the causes of premature birth. Your baby is considered to have: A low experiência weight if they weigh less than 2500 g (5 lb) A very low birth weight if they weigh less than 1500 g (3 lb) An extremely low birth weight if they weigh less than 1000 g (2 lb) Recent research by.
Patient information leaflet
Cânceres infantis
Childhood cancer is rare and is much less common than cancer in adults. There are many different type of cancer that can affect children and childhood cancers can cause many different symptoms. There... Liver cancer Liver cancers are rare in childhood. Most (about 4 in 5) childhood liver tumours are called hepatoblastomas e o rest are called.
Patient information leaflet
Vacina 6 em 1
The 6-in-1 vaccine is part of routine childhood immunisations and protects babies against six different serious illnesses. Three doses are given. Further boosters without all six components are given at other times later in childhood and in adult life. The 6-in-1 vaccine used to be given as the 3-in-1 vaccine DTaP along with the polio vaccine.
Patient information leaflet
Neuroblastoma
Neuroblastoma é a cancer affecting developing nerve cells. Neuroblastoma is a rare cancer and most often occurs in children under 5 years old. Neuroblastoma often starts in the tummy (abdomen) but can spread to other parts of the body, especially bones, liver and skin. The treatments for neuroblastoma include surgery, chemotherapy and.
Patient information leaflet
Obesidade infantil
If your child is overweight or obese, they have an increased risk of developing various health problems and are more likely to become an overweight adult. The child is also more likely to... Obesidade infantil statistics The most recent figures show that in the UK In 2015/16, about 1 in 5 children in Reception class (age 4-5 years) e over 1 in 3.
Patient information leaflet
Prevenção de infecções após esplenectomia
In particular, you should ... Also, see general information about travelling abroad below. Childhood immunisations They should have all the other usual childhood immunisations apart from a variation in the meningococcal vaccine. That is, the meningococcal ACWY conjugate vaccine should be given instead of, or in addition to, the group C.
Leitura adicional e referências
- Childhood myocerebrohepatopathy spectrum; MedlinePlus, National Library of Medicine.
- Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK26471/
- Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89.
- Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501.
- Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M, Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5. Epub 2008 Apr 16.
- Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase gamma mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.