Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Elpis-Athina Vlachopapadopoulou ◽  
Eirini Dikaiakou ◽  
Anatoli Fotiadou ◽  
Popi Sifianou ◽  
Elizabeth Barbara Tatsi ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Congenital Hyperinsulinism ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Hypoketotic Hypoglycaemia ◽  
History Of ◽  
Neonates And Infants ◽  
Diabetic Mothers

AbstractObjectivesCongenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.Case PresentationIn this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes.ConclusionGenetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A.

scholarly journals Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Kodai Abe ◽  
Arisa Ueki ◽  
Yusaku Urakawa ◽  
Minoru Kitago ◽  
Tomoko Yoshihama ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Genetic Analysis ◽  
Pathogenic Variant ◽  
Familial Pancreatic Cancer ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Pancreatic Cancers ◽  
Epidemiological Surveys ◽  
History Of

Abstract Background Family history is one of the risk factors for pancreatic cancer. It is suggested that patients with pancreatic cancer who have a familial history harbor germline pathogenic variants of BRCA1 and/or BRCA2 (BRCA1/2), PALB2, or ATM. Recently, some germline variants of familial pancreatic cancers (FPCs), including PALB2, have been detected. Several countries, including Japan, perform screening workups and genetic analysis for pancreatic cancers. We have been carrying out active surveillance for FPC through epidemiological surveys, imaging analyses, and genetic analysis. Case presentation Here, we present the case of a female patient harboring pathogenic variants of PALB2 and NBN, with a family history of multiple pancreatic cancer in her younger brother, her aunt, and her father. Moreover, her father harbored a PALB2 pathogenic variant and her daughter harbored the same NBN pathogenic variant. Given the PALB2 and NBN variants, we designed surveillance strategies for the pancreas, breast, and ovary. Conclusions Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.

Methemoglobinaemia in Diabetic Ketoacidosis Patient

2021 ◽  
Vol 03 ◽  
Author(s):  
Magdy Mohamed ◽  
Nadem Javed
Keyword(s):  
Ascorbic Acid ◽  
Family History ◽  
Diabetic Ketoacidosis ◽  
G6pd Deficiency ◽  
Genetic Disorder ◽  
Red Blood Cell Transfusion ◽  
Case Presentation ◽  
History Of ◽  
Insulin Dependent ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked genetic disorder. Case Presentation: In this paper, we report a case of a 41-years-old male patient with non-insulin-dependent diabetes and a family history of G6PD deficiency never known to have any previous hemolytic episodes, presented as a case of diabetic ketoacidosis with features of hemolytic anemia due to G6PD deficiency manifesting as methemoglobinemia and anemia. Conclusion: Our patient successfully managed with ascorbic acid and red blood cell transfusion. Clinicians should, therefore, be aware of the possibility of this uncommon association between diabetic ketoacidosis, G6PD deficiency, and methemoglobinemia which may be present in patients with G6PD deficiency and severe hemolysis.

Jarcho-Levin Syndrome: A Case Study

2004 ◽  
Vol 23 (5) ◽  
pp. 9-21
Author(s):  
Peggy Ables
Keyword(s):  
Respiratory Failure ◽  
Medical Care ◽  
Genetic Disorder ◽  
Disease Process ◽  
Case Presentation ◽  
Rare Genetic Disorder ◽  
Spondylocostal Dysostosis ◽  
Rib Anomalies ◽  
History Of

Jarcho-Levin syndrome is a rare genetic disorder characterized by multiple vertebral and rib anomalies. There are two types of Jarcho-Levin syndrome, spondylothoracic dysplasia and spondylocostal dysostosis. Spondylothoracic dysplasia has a grimmer prognosis than spondylocostal dysostosis. Many of the infants born with this disorder succumb to respiratory failure. With new advances in medical care, even the more severely affected children have an improved chance of survival. This is a case presentation of one child with spondylothoracic dysplasia and a brief history of the disease process.

scholarly journals Massive Pulmonary Emboli in Klinefelter Syndrome: A Rare Case Report

2021 ◽  
Vol 11 (4) ◽  
Author(s):  
Fatemeh Javaherforooshzadeh ◽  
Yusef Torfi
Keyword(s):  
Klinefelter Syndrome ◽  
Genetic Disorder ◽  
Anticoagulation Therapy ◽  
Acute Chest Pain ◽  
Case Presentation ◽  
Oral Anticoagulation Therapy ◽  
Rare Case Report ◽  
Chief Complaints ◽  
History Of ◽  
Surgery Center

Introduction: Klinefelter syndrome (KS) is a genetic disorder that affects men. An augmented incidence of the thromboembolic event described in patients with KS. Case Presentation: A 34-year-old male identified with a definitive diagnosis of KS was hospitalized to our cardiac surgery center through the emergency with chief complaints of acute chest pain and dyspnea. Saddle pulmonary thromboembolism was established from chest Computed Tomography Angiography (CTA). The patient's symptoms resolved after embolectomy via surgery. Conclusions: There is a tendency for hypercoagulability in KS. This tendency is because of hormonal discrepancy and hereditary thrombophilic factors. So, patients with KS and past medical history of venous thromboembolism necessitate constant oral anticoagulation therapy.

scholarly journals Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Mei Guo ◽  
Qinqin Xu ◽  
Xuefeng Yu ◽  
Qin Yang ◽  
Shiying Shao
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Gene Sequencing ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Exon 2 ◽  
Case Presentation ◽  
Dorsal Pancreas ◽  
Heterozygous Variant ◽  
Missed Diagnosis

BackgroundAgenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the HNF1B score was estimated as 16 and a heterozygous variant of HNF1B in exon 2 (c.513G>A-p.W171X) was identified through gene sequencing.ConclusionsA good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of HNF1B score is recommended before genetic testing.

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4

Diabetes ◽  
1997 ◽  
Vol 46 (3) ◽  
pp. 528-535 ◽  
Author(s):  
P. J. Kaisaki ◽  
S. Menzel ◽  
T. Lindner ◽  
N. Oda ◽  
I. Rjasanowski ◽  
...  
Keyword(s):  
Early Onset ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Exon 4

Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative

Diabetes ◽  
1998 ◽  
Vol 47 (8) ◽  
pp. 1231-1235 ◽  
Author(s):  
K. Yamagata ◽  
Q. Yang ◽  
K. Yamamoto ◽  
H. Iwahashi ◽  
J. Miyagawa ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Dominant Negative ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor
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