Cargando…

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism

Background: Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (wh...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chandran, Suresh, Peng, Fabian Yap Kok, Rajadurai, Victor Samuel, Lu, Yap Te, Chang, Kenneth T E, Flanagan, S E, Ellard, S, Hussain, Khalid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2013
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922076/ https://www.ncbi.nlm.nih.gov/pubmed/24616771 http://dx.doi.org/10.1530/EDM-13-0041

Ejemplares similares

Congenital hyperinsulinism and panhypopituitarism: a rare combination
por: Patel, Foram, et al.
Publicado: (2023)

Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
por: Giri, Dinesh, et al.
Publicado: (2017)

Emergence of a latent TSHoma pituitary macroadenoma on a background of primary autoimmune hypothyroidism
por: Yap, Yew Wen, et al.
Publicado: (2018)

Glucokinase activating mutation causing hypoglycaemia diagnosed late in adult who fasts for Ramadhan
por: Loh, Wann Jia, et al.
Publicado: (2021)

Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father
por: Damji, Rahim Karim, et al.
Publicado: (2023)

Symptomatic empty sella syndrome: an unusual manifestation of Erdheim–Chester disease
por: Loh, Wann Jia, et al.
Publicado: (2015)

GHRH secretion from a pancreatic neuroendocrine tumor causing gigantism in a patient with MEN1
por: Srirangam Nadhamuni, Vinaya, et al.
Publicado: (2021)

Pure aldosterone-secreting adrenocortical carcinoma in a patient with refractory primary hyperaldosteronism
por: Hussain, S, et al.
Publicado: (2015)

Ketosis-prone diabetes and SLE co-presenting in an African lady with previous gestational diabetes
por: Hussain, S, et al.
Publicado: (2017)

Sertoliform endometrioid carcinoma of the right ovary
por: Alali, Mohammad, et al.
Publicado: (2023)

Congenital lipoid adrenal hyperplasia in a Saudi infant
por: Subki, Siham Hussein, et al.
Publicado: (2022)

Glucagonoma-induced acute heart failure
por: Zhang, Kun, et al.
Publicado: (2014)

Phaeochromocytoma and Acromegaly: a unifying diagnosis
por: Mumby, C, et al.
Publicado: (2014)

Gonadotrophin abnormalities in an infant with Lowe syndrome
por: Warner, Bronwen E, et al.
Publicado: (2017)

Acromegaly remission, SIADH and pituitary function recovery after macroadenoma apoplexy
por: Sanz-Sapera, E, et al.
Publicado: (2019)

Lymphadenopathy after COVID-19 vaccination in patients with endocrine cancer: two case reports
por: Dirven, Iris, et al.
Publicado: (2022)

Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH
por: Tang, Andrew R, et al.
Publicado: (2019)

Myopathic dysphagia caused by thyrotoxicosis: a case report and review of the literature
por: Alwithenani, Raad, et al.
Publicado: (2022)

Endemic goitre and hypothyroidism in an adult female patient dependent on total parenteral nutrition
por: Pearson, S, et al.
Publicado: (2017)

Abnormal thyroid function: an unusual presentation of pituitary stalk interruption syndrome
por: Steen, Erica A, et al.
Publicado: (2023)

Myositis, rhabdomyolysis and severe hypercalcaemia in a body builder
por: Ravindran, Ravikumar, et al.
Publicado: (2020)

Pituitary hyperplasia: an uncommon presentation of a common disease
por: Neves, C P, et al.
Publicado: (2015)

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia
por: Stiles, C E, et al.
Publicado: (2018)

Metastatic medullary thyroid carcinoma presenting as ectopic Cushing’s syndrome
por: Forde, Hannah E, et al.
Publicado: (2021)

Making weight: acute muscle weakness and hypokalaemia exacerbated by thyrotoxicosis factitia in a bodybuilder
por: Bonnar, Clare E, et al.
Publicado: (2021)

Pseudohypoaldosteronism type 1: clinical features and management in infancy
por: Amin, N, et al.
Publicado: (2013)

Multiple electrolyte disturbances as the presenting feature of multiple endocrine neoplasia type 1 (MEN-1)
por: Li, Adrian Po Zhu, et al.
Publicado: (2022)

An aggressive poorly differentiated plurihormonal Pit-1-positive adenoma
por: Postma, Mark R, et al.
Publicado: (2021)

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
por: Tung, Joanna Yuet-ling, et al.
Publicado: (2020)

Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
por: Hussain, Suhaimi, et al.
Publicado: (2015)

A case of a woman with late-pregnancy-onset DKA who had normal glucose tolerance in the first trimester
por: Himuro, Hiromi, et al.
Publicado: (2014)

Paraneoplastic hypoglycemia in a patient with a malignant solitary fibrous tumor
por: Mohammedi, Kamel, et al.
Publicado: (2014)

Two patients with a neuroendocrine tumour of the small intestine and paraneoplastic myasthenia gravis
por: Hermans, M A W, et al.
Publicado: (2014)

Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia
por: Rajpoot, Sudeep K, et al.
Publicado: (2014)

IgG4-related thyroiditis: a case report and review of literature
por: Abo Salook, Mahmud, et al.
Publicado: (2014)

Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy
por: Pikilidou, Maria, et al.
Publicado: (2014)

Bacterial meningitis as a first presentation of pituitary macroprolactinoma
por: Margari, Niki, et al.
Publicado: (2014)

Recurrent pancreatitis in a patient with familial hypocalciuric hypercalcaemia treated successfully with cinacalcet
por: Gunganah, Kirun, et al.
Publicado: (2014)

Burkitt's lymphoma presenting with hypopituitarism: a case report and review of literature
por: Foo, Siew Hui, et al.
Publicado: (2014)

A case of pituitary apoplexy in pregnancy
por: Hayes, Aimee R, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_03o7o7224q57892q3rv4em4ad0