Cargando…

Combined SPINK1 mutations induce early-onset severe chronic pancreatitis in a child with severe obesity

SUMMARY: The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The serine protease inhibitor Kazal type 1 (SPINK 1) gene is known to be strongly ass...

Descripción completa

Detalles Bibliográficos
Autores principales:	Abass, Maha Khalil, Al Shamsi, Aisha, Jan, Iftikhar, Masalawala, Mohammed Suhail Yasin, Deeb, Asma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2022
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513635/ https://www.ncbi.nlm.nih.gov/pubmed/36053195 http://dx.doi.org/10.1530/EDM-22-0273

Ejemplares similares

Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation
por: Gonsalves, Rob, et al.
Publicado: (2020)

Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome
por: Deeb, Asma, et al.
Publicado: (2017)

LHX3 deficiency presenting in the United States with severe developmental delay in a child of Syrian refugee parents
por: Ahern, Susan, et al.
Publicado: (2018)

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

Severe diabetic ketoacidosis complicated by hypocapnic seizure
por: Majid, A, et al.
Publicado: (2017)

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

Licorice induced pseudohyperaldosteronism, severe hypertension, and long QT
por: Smedegaard, Stine Bech, et al.
Publicado: (2019)

Severe Cushing’s syndrome and bilateral pulmonary nodules: beyond ectopic ACTH
por: Tavares Bello, Carlos, et al.
Publicado: (2017)

Severe hypokalaemia in diabetic ketoacidosis: a contributor to central pontine myelinolysis?
por: Chinoy, A, et al.
Publicado: (2019)

Severe bilateral adrenal hemorrhages in a newborn complicated by persistent adrenal insufficiency
por: Zessis, Nicholas R, et al.
Publicado: (2018)

Pheochromocytoma crisis precipitated by dexamethasone with profound lactic acidosis, but without severe hypertension
por: Lin, David, et al.
Publicado: (2022)

A rare case of severe bilateral Graves’ orbitopathy involving an anophthalmic socket
por: Ali, Mudassir, et al.
Publicado: (2022)

Papillary follicular variant thyroid cancer in a malignant struma ovarii: a report of a rare case
por: Elshafie, Omayma, et al.
Publicado: (2022)

Unusual hypocalcaemia in breast cancer relapse with multiple bone metastasis
por: Darawshi, Said, et al.
Publicado: (2021)

Reversal of severe cognitive impairment following medical treatment of cystic invasive giant prolactinoma
por: Bukowczan, J, et al.
Publicado: (2016)

Severe paraneoplastic hypoglycemia secondary to a gastrointestinal stromal tumour masquerading as a stroke
por: Dimitriadis, G K, et al.
Publicado: (2015)

Growth hormone and insulin-like growth factor 1 affect the severity of Graves’ disease
por: Di Cerbo, Alfredo, et al.
Publicado: (2017)

3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy
por: Deeb, A, et al.
Publicado: (2015)

Stress-induced severe transient hypercortisolism with reversible bilateral adrenal enlargement after cardiogenic shock
por: Noreña, Jairo Arturo, et al.
Publicado: (2023)

Severe hyponatremia with consciousness disturbance after receiving SARS-CoV-2 mRNA vaccination
por: Kumagai, Takuya, et al.
Publicado: (2023)

Rapid-onset diabetic ketoacidosis secondary to nivolumab therapy
por: Lee, Senhong, et al.
Publicado: (2018)

Atypical manifestation of parathyroid carcinoma with late-onset distant metastases
por: Tsoli, Marina, et al.
Publicado: (2017)

Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child
por: Abdalla, Asmahan, et al.
Publicado: (2021)

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

Rickets in a child with prolonged acquired hypothyroidism secondary to Hashimoto’s thyroiditis
por: Schulmeister, Caroline, et al.
Publicado: (2022)

New-onset thyrotoxicosis in a patient with anaplastic thyroid carcinoma: a diagnostic challenge
por: Concepción Zavaleta, Marcio José, et al.
Publicado: (2021)

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

Painless foot drop: an unusual acute presentation of new onset type 1 diabetes mellitus
por: Corcillo, Antonella, et al.
Publicado: (2021)

Bilateral atypical femoral fractures during denosumab therapy in a patient with adult-onset hypophosphatasia
por: Warren, Annabelle M, et al.
Publicado: (2021)

Adult-onset Langerhans cell histiocytosis changing CNS lesion from pituitary to suprasellar extension
por: Kadowaki, Yuji, et al.
Publicado: (2022)

Delayed presentation of late-onset cerebrospinal fluid rhinorrhoea following dopamine agonist therapy for giant prolactinoma
por: Prague, J K, et al.
Publicado: (2014)

An unusual case of adult-onset multi-systemic Langerhans cell histiocytosis with perianal and incident thyroid involvement
por: Gul, Ozen Oz, et al.
Publicado: (2017)

Elderly-onset calcinosis of hyperphosphataemic familial tumoural calcinosis/hyperostosis-hyperphosphataemia syndrome: the role of comorbid scleroderma
por: Iwasaki, Hiroaki
Publicado: (2023)

Adrenal insufficiency in a child following unilateral excision of a dual-hormone secreting phaeochromocytoma
por: Sjoeholm, Annika, et al.
Publicado: (2015)

New-onset primary adrenal insufficiency in pregnancy associated with a unilateral adrenal infarction: a case report
por: Menon, Lakshmi, et al.
Publicado: (2023)

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)

Acute kidney injury caused by ammonium acid urate crystals in diabetic ketoacidosis at the onset of type 1 diabetes mellitus
por: Shimazaki, Shunsuke, et al.
Publicado: (2021)

Maturity-onset diabetes of the young type 3 and premature ovarian insufficiency: chance or causality: a case report and literature review
por: Alvarez, Mauricio, et al.
Publicado: (2022)

Acute onset of diabetes and rapid cognitive decline in a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome
por: Tran, Nam Quang, et al.
Publicado: (2023)

Hypertriglyceridemia as a main feature associated with 17q12 deletion syndrome-related hepatocyte nuclear factor 1β-maturity-onset diabetes of the young
por: Thewjitcharoen, Yotsapon, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_faous5sskln9u3recdosokt3kq