Cargando…

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia

29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stiles, C E, Thuraisingham, R, Bockenhauer, D, Platts, L, Kumar, A V, Korbonits, M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2018
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863246/ https://www.ncbi.nlm.nih.gov/pubmed/29576871 http://dx.doi.org/10.1530/EDM-17-0120

Ejemplares similares

Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
por: Clemente, María, et al.
Publicado: (2017)

New-onset diabetes after kidney transplantation revealing HNF1B-associated disease
por: Lopes, Ana M, et al.
Publicado: (2021)

Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
por: Taki, Katsumi, 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)

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
por: Chandran, Suresh, et al.
Publicado: (2013)

A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma
por: Remde, Hanna, et al.
Publicado: (2015)

Persistent hyperthyroidism and de novo Graves’ ophthalmopathy after total thyroidectomy
por: Tay, Wei Lin, et al.
Publicado: (2017)

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

De novo purely prostatic large-cell neuroendocrine carcinoma with thyroid and adrenal metastases
por: Karvounis, Evangelos, et al.
Publicado: (2022)

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

A family with type A insulin resistance syndrome caused by a novel insulin receptor mutation
por: Horikawa, Osamu, et al.
Publicado: (2023)

Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis
por: Yukina, Marina, et al.
Publicado: (2021)

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation
por: Vasudevan, Pradeep, et al.
Publicado: (2017)

Combined SPINK1 mutations induce early-onset severe chronic pancreatitis in a child with severe obesity
por: Abass, Maha Khalil, et al.
Publicado: (2022)

An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene
por: Dinesen, Pia T, et al.
Publicado: (2015)

17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development
por: Deeb, Asma, et al.
Publicado: (2015)

An unusual cause of gynaecomastia in a male
por: Rehman, Tejhmal, et al.
Publicado: (2019)

A rare cause of postpartum acute hyponatremia
por: Rahmani Tzvi-Ran, Ilan, et al.
Publicado: (2019)

Diabetes insipidus and hypopituitarism in HIV: an unexpected cause
por: Tavares Bello, Carlos, et al.
Publicado: (2017)

Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma
por: Maison, Nicole, et al.
Publicado: (2016)

An unusual cause of adrenal insufficiency and bilateral adrenal masses
por: Tee, Su Ann, et al.
Publicado: (2018)

Granular cell tumour of the neurohypophysis: an unusual cause of hypopituitarism
por: Bello, Carlos Tavares, et al.
Publicado: (2018)

Mitochondrial disease: an uncommon but important cause of diabetes mellitus
por: Yee, Ming Li, et al.
Publicado: (2018)

Myxoedema coma caused by immunotherapy-related thyroiditis and enteritis
por: Mc Donald, Darran, et al.
Publicado: (2021)

Glucocorticoid-induced adrenal insufficiency: an uncommon cause of hypercalcaemia
por: De Silva, S D N, et al.
Publicado: (2022)

ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series
por: Mohn, Angelika, et al.
Publicado: (2021)

Early onset obesity due to a mutation in the human leptin receptor gene
por: Chaves, Carolina, et al.
Publicado: (2022)

The McKittrick–Wheelock syndrome: a rare cause of curable diabetes
por: Challis, Benjamin G, et al.
Publicado: (2016)

Hyperinsulinemic hypoglycemia associated with insulin antibodies caused by exogenous insulin analog
por: Su, Chih-Ting, et al.
Publicado: (2016)

Hyponatremia after anticoagulant treatment: a rare cause of adrenal failure
por: Zampetti, Benedetta, et al.
Publicado: (2018)

Curative resection of an aldosteronoma causing primary aldosteronism in the second trimester of pregnancy
por: Shekhar, Skand, et al.
Publicado: (2020)

Juxtaglomerular cell tumour of the kidney: a rare cause of resistant hypertension
por: Skarakis, Nikitas S, et al.
Publicado: (2021)

Metastatic mixed VIPoma/PPoma-induced diarrhoea causing renal failure
por: Brown, George, et al.
Publicado: (2022)

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

PROP1 gene mutations in a 36-year-old female presenting with psychosis
por: Chaudhary, Durgesh Prasad, et al.
Publicado: (2017)

Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes
por: Devaraja, Janani, et al.
Publicado: (2020)

A rare case of gestational thyrotoxicosis as a cause of acute myocardial infarction
por: Nannaka, Varalaxmi Bhavani, et al.
Publicado: (2016)

Non-functional duodenal neuroendocrine carcinoma: a rare cause of diabetes mellitus
por: Bisambar, Chad, et al.
Publicado: (2018)

Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
por: Stoyle, George, et al.
Publicado: (2018)

Distant lung metastases caused by a histologically benign phosphaturic mesenchymal tumor
por: Yavropoulou, Maria P, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_2lctrrvt47u9s0cmk5mpkjtmqb