scholarly journals Familial hyperinsulinaemic hypoglycaemia with epileptic syndrome, cognitive impairment and detected mutation of the ABCC 8 (SUR1) gene: a case report

Folia Medica ◽  
2021 ◽  
Vol 63 (5) ◽  
pp. 805-808
Author(s):  
Ana Shopova ◽  
Silvia Shopova ◽  
Irina Stefanova ◽  
Rumyana Kuzmanova
Keyword(s):  
Brain Damage ◽  
Pancreatic Beta Cells ◽  
Imaging Techniques ◽  
Clinical Approach ◽  
Gene Encoding ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Genealogical Tree ◽  
Epileptic Syndrome ◽  
Abcc8 Gene ◽  
Timely Treatment

Hyperinsulinaemic hypoglycaemia (HH) occurs as a consequence of unregulated insulin secretion from pancreatic beta cells. It is the most common cause of severe and prolonged hypoglycemia in newborns. HH is a major risk factor for brain damage and subsequent neurological disability, which is why the identification, rapid diagnosis, and timely treatment of patients with HH are essential for the prevention of brain damage. The present case gives a brief description of a patient with congenital HH with an established mutation in the ABCC8 gene encoding the SUR1 subunit of the K-ATP channel. The genealogical tree, the clinical picture, the diagnostic cascade, the neurological consequences and their development in dynamics are considered, with special emphasis on the epileptic syndrome and mental status. Advances in molecular genetics, radiological imaging techniques, conservative treatment, or laparoscopic surgery may completely change the clinical approach to children with severe congenital forms of HH.

Diagnosis and Management of Cardiomyopathies – A Focus on Genetics, Cardiac Magnetic Resonance and Clinical Features

2011 ◽  
Vol 7 (3) ◽  
pp. 225
Author(s):  
Gianfranco Sinagra ◽  
Michele Moretti ◽  
Giancarlo Vitrella ◽  
Marco Merlo ◽  
Rossana Bussani ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Imaging Techniques ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Routine Clinical Practice ◽  
Clinical Approach ◽  
Diagnosis And Management ◽  
Made In

In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet included in routine clinical practice, mainly because of their elevated costs and execution time. A patient-based and patient-oriented clinical approach, coupled with new imaging techniques such as cardiac magnetic resonance, can be of great help in selecting patients for molecular genetic analysis and is crucial for a better characterisation of these diseases. This article will specifically address clinical, magnetic resonance and genetic aspects of the diagnosis and management of cardiomyopathies.

scholarly journals Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation

2013 ◽  
Vol 2013 (apr05 1) ◽  
pp. bcr2013008767-bcr2013008767 ◽  
Author(s):  
D. Khoriati ◽  
V. B. Arya ◽  
S. E. Flanagan ◽  
S. Ellard ◽  
K. Hussain
Keyword(s):  
Gene Mutation ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Abcc8 Gene

Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1

2009 ◽  
Vol 76 (11) ◽  
pp. 1169-1172 ◽  
Author(s):  
C. M. Batra ◽  
Nomeeta Gupta ◽  
Gurdeep Atwal ◽  
Vimal Gupta
Keyword(s):  
Neonatal Diabetes ◽  
Gene Encoding ◽  
Abcc8 Gene ◽  
Activating Mutation ◽  
Transient Neonatal Diabetes

scholarly journals GIANT CORONARY ANEURYSM IN A 6 WEEK OLD INFANT, AN UNUSUAL FINDING?

2021 ◽  
Author(s):  
Jorge Palacios Argueta ◽  
Judith Sanchez Manubens ◽  
Flavio Zuccarino ◽  
Silvia Teodoro Marin ◽  
Fredy Prada Martinez
Keyword(s):  
Kawasaki Disease ◽  
Coronary Aneurysm ◽  
Clinical Approach ◽  
Atypical Presentation ◽  
Significant Morbidity ◽  
Coronary Artery Abnormalities ◽  
Giant Coronary Aneurysm ◽  
Timely Treatment ◽  
Unusual Finding

Kawasaki disease (KD) is a self-limited vasculitis with significant morbidity and even mortality if not treated early. The diagnosis and timely treatment in children younger than 3 months is challenging, most of them have an incomplete or atypical presentation. Coronary artery abnormalities are frequent in this type of patients. We present a 6-week-old female infant with Kawasaki disease who developed a giant coronary aneurysm. The timely diagnosis and promptly treatment as well as the echocardiographic and multimodality follow-up allowed us to improve our clinical approach and management.

Systematic trial of Nifedipine in children with Hyperinsulinaemic Hypoglycaemia due to mutations in the ABCC8 gene

2016 ◽  
Author(s):  
Maria Guemes ◽  
Pratik Shah ◽  
Shavel Silvera ◽  
Louise Hinchley ◽  
Kate Morgan ◽  
...  
Keyword(s):  
Hyperinsulinaemic Hypoglycaemia ◽  
Abcc8 Gene

scholarly journals Ion Transporters, Channelopathies, and Glucose Disorders

2019 ◽  
Vol 20 (10) ◽  
pp. 2590 ◽  
Author(s):  
Huseyin Demirbilek ◽  
Sonya Galcheva ◽  
Dogus Vuralli ◽  
Sara Al-Khawaga ◽  
Khalid Hussain
Keyword(s):  
Diabetes Mellitus ◽  
Pancreatic Beta Cells ◽  
Neonatal Diabetes ◽  
Katp Channels ◽  
Excitable Cells ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Different Types ◽  
Genes Encoding ◽  
Solute Carrier

Ion channels and transporters play essential roles in excitable cells including cardiac, skeletal and smooth muscle cells, neurons, and endocrine cells. In pancreatic beta-cells, for example, potassium KATP channels link the metabolic signals generated inside the cell to changes in the beta-cell membrane potential, and ultimately regulate insulin secretion. Mutations in the genes encoding some ion transporter and channel proteins lead to disorders of glucose homeostasis (hyperinsulinaemic hypoglycaemia and different forms of diabetes mellitus). Pancreatic KATP, Non-KATP, and some calcium channelopathies and MCT1 transporter defects can lead to various forms of hyperinsulinaemic hypoglycaemia (HH). Mutations in the genes encoding the pancreatic KATP channels can also lead to different types of diabetes (including neonatal diabetes mellitus (NDM) and Maturity Onset Diabetes of the Young, MODY), and defects in the solute carrier family 2 member 2 (SLC2A2) leads to diabetes mellitus as part of the Fanconi–Bickel syndrome. Variants or polymorphisms in some ion channel genes and transporters have been reported in association with type 2 diabetes mellitus.

History of Italian Neuropsychology

2016 ◽  
Author(s):  
Francois Boller ◽  
Guido Gainotti ◽  
Dario Grossi ◽  
Giuseppe Vallar
Keyword(s):  
Human Brain ◽  
Ct Scan ◽  
Standardized Tests ◽  
Brain Damage ◽  
Clinical Diagnosis ◽  
Imaging Techniques ◽  
Behavioral Deficits ◽  
Mental Diseases ◽  
History Of ◽  
Systematic Development

Early Italian clinicians and researchers dedicated their work to human neuropsychology mainly through analysis of variations of cognitive and behavioral functions caused by brain damage. The systematic development of neuropsychology in Italy started in the early 1960s in Milan with the neurologist Ennio De Renzi and his collaborators (mainly Luigi A. Vignolo, early on) in the Clinic of Nervous and Mental Diseases. The “Milan group” investigated several neuropsychological deficits caused by focal hemispheric lesions in human brain-damaged patients, developing standardized tests and advanced statistical methods applied to the clinical diagnosis and the rehabilitation of aphasia. It first used the new imaging techniques (CT scan) in the 1970s to correlate lesion sites with behavioral deficits. Since then, neuropsychology and neuropsychological research, both basic and applied, have developed extensively in other parts of Italy and include clinical diagnosis and rehabilitation of patients with brain damage or dysfunction throughout the life span.

scholarly journals The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia

2018 ◽  
Vol 91 (1) ◽  
pp. 56-61 ◽  
Author(s):  
Antonia Dastamani ◽  
Maria Güemes ◽  
Catherine Pitfield ◽  
Kate Morgan ◽  
Mansoor Rajab ◽  
...  
Keyword(s):  
Ct Scan ◽  
Gene Mutation ◽  
Pancreatic Head ◽  
Somatostatin Analogue ◽  
Close Monitoring ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Abcc8 Gene ◽  
Pet Ct ◽  
Long Acting ◽  
Pet Ct Scan

Background: A long-acting somatostatin analogue (lanreotide) is used in the management of a diazoxide-unresponsive diffuse form of congenital hyperinsulinism (CHI). However, no reports of its use in patients with the focal form of CHI exist. Case 1: A 1-month-old boy diagnosed with diazoxide-unresponsive CHI due to a paternal heterozygous ABCC8 gene mutation showed partial response to octreotide. 18F-DOPA-PET/CT scan revealed a focal lesion in the pancreatic head. Surgical removal of the lesion was unsuccessful. He was switched to monthly lanreotide treatment at the age of 11 months, which stabilised his blood glucose over a 12-month period. Case 2: A 1-month-old boy with diazoxide-unresponsive CHI due to a paternal heterozygous KCNJ11 gene mutation was partially responsive to octreotide. 18F-DOPA-PET/CT scan confirmed a focal pancreatic head lesion. Over 6 months, he underwent 3 lesionectomies and afterwards responded to octreotide. At the age of 9 months, treatment was switched to monthly lanreotide. Currently, he is aged 3, with stable glycaemia, and improved fasting tolerance. Case 3: A 3-week-old girl with a paternal heterozygous ABCC8 gene mutation was unresponsive to diazoxide. 18F-DOPA-PET/CT scan confirmed a focal pancreatic head lesion. She responded to octreotide, and her parents preferred to avoid pancreatic surgery. At the age of 20 months, treatment was switched to monthly lanreotide, resulting in euglycaemia over the last 7 months. Conclusion: CHI patients with focal pancreatic head lesions are challenging, especially if not surgically amenable. Conservative treatment is preferable, and lanreotide might be an option. The therapeutic impact of lanreotide treatment in patients with the focal forms of CHI should be confirmed in prospective studies with close monitoring of the side effects.

Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

2011 ◽  
Vol 57 (2) ◽  
pp. 3-8
Author(s):  
I I Dedov ◽  
Iu V Tikhonovich ◽  
Elena E Petriaikina ◽  
I G Rybkina ◽  
I É Volkov ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Pancreatic Beta Cells ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Molecular Genetic Analysis ◽  
Neonatal Diabetes Mellitus ◽  
Molecular Genetic Study ◽  
Abcc8 Gene ◽  
Sound Therapy

Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.

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