Browse

You are looking at 1 - 10 of 155 items

S Chew Sue Mei Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

Search for other papers by S Chew Sue Mei in
Google Scholar
PubMed
Close
,
N Pritchard Department of Renal Medicine, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

Search for other papers by N Pritchard in
Google Scholar
PubMed
Close
,
H Grayton Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Search for other papers by H Grayton in
Google Scholar
PubMed
Close
,
I Simonicova Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Search for other papers by I Simonicova in
Google Scholar
PubMed
Close
,
S M Park Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Search for other papers by S M Park in
Google Scholar
PubMed
Close
, and
A I Adler Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
University of Oxford Diabetes Trials Unit, Oxford, UK

Search for other papers by A I Adler in
Google Scholar
PubMed
Close

Summary

Kabuki syndrome is a genetic disorder characterised by distinctive facial features, developmental delays, and multisystem congenital anomalies. Endocrine complications such as premature thelarche and short stature are common, whereas disorders of glycaemic control are less frequent. We describe a 23-year-old white female referred to the diabetes clinic for hyperglycaemia during haemodialysis. She was subsequently diagnosed with Kabuki syndrome based on characteristic clinical features, confirmed by detecting a heterozygous pathogenic variant in KMT2D. She was known to have had multiple congenital anomalies at birth, including complex congenital heart disease and a single dysplastic ectopic kidney, and received a cadaveric transplanted kidney at the age of 13. She had hyperglycaemia consistent with post-transplant diabetes mellitus (DM) and was started on insulin. Examination at the time revealed truncal obesity. She developed acute graft rejection and graft failure 14 months post-transplant and she was started on haemodialysis. Her blood glucose levels normalised post-graft explant, but she was hyperglycaemic again during haemodialysis at the age of 23. Given her clinical phenotype, negative diabetes antibodies and normal pancreas on ultrasound, she was assumed to have type 2 DM and achieved good glycaemic control with gliclazide.

Learning points

  • Involve clinical genetics early in the investigative pathway of sick neonates born with multiple congenital anomalies to establish a diagnosis to direct medical care.

  • Consider the possibility of Kabuki syndrome (KS) in the differential diagnoses in any neonate with normal karyotyping or microarray analysis and with multiple congenital anomalies (especially cardiac, renal, or skeletal), dysmorphic facial features, transient neonatal hypoglycaemia and failure to thrive.

  • Consider the possibility of diabetes as an endocrine complication in KS patients who are obese or who have autoimmune disorders.

Open access
Hakan Ozoran Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Clinical Medical School, University of Oxford, Oxford, UK
Green Templeton College, University of Oxford, Oxford, UK

Search for other papers by Hakan Ozoran in
Google Scholar
PubMed
Close
,
Phoenix Guwa Clinical Medical School, University of Oxford, Oxford, UK
Green Templeton College, University of Oxford, Oxford, UK

Search for other papers by Phoenix Guwa in
Google Scholar
PubMed
Close
,
Pam Dyson Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK

Search for other papers by Pam Dyson in
Google Scholar
PubMed
Close
,
Garry D Tan Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals Foundation Trust, Oxford, UK
NIHR Biomedical Research Centre, Oxford University Hospitals Foundation Trust, Oxford, UK

Search for other papers by Garry D Tan in
Google Scholar
PubMed
Close
, and
Fredrik Karpe Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
NIHR Biomedical Research Centre, Oxford University Hospitals Foundation Trust, Oxford, UK

Search for other papers by Fredrik Karpe in
Google Scholar
PubMed
Close

Summary

The use of a low-carbohydrate diet (LCD) reduces insulin requirements in insulinopenic states such as type 1 diabetes mellitus (T1DM). However, the use of potentially ketogenic diets in this clinical setting is contentious and the mechanisms underlying their impact on glycaemic control are poorly understood. We report a case of a patient with a late-onset classic presentation of T1DM who adopted a very low-carbohydrate diet and completely avoided insulin therapy for 18 months, followed by tight glycaemic control on minimal insulin doses. The observations suggest that adherence to an LCD in T1DM, implemented soon after diagnosis, can facilitate an improved and less variable glycaemic profile in conjunction with temporary remission in some individuals. Importantly, these changes occurred in a manner that did not lead to a significant increase in blood ketone (beta-hydroxybutyrate) concentrations. This case highlights the need for further research in the form of randomised controlled trials to assess the long-term safety and sustainability of carbohydrate-reduced diets in T1DM.

Learning points

  • This case highlights the potential of low-carbohydrate diets (LCDs) in type 1 diabetes mellitus (T1DM) to mediate improved diabetes control and possible remission soon after diagnosis.

  • Could carbohydrate-reduced diets implemented early in the course of T1DM delay the decline in endogenous insulin production?

  • Adherence to an LCD in T1DM can facilitate an improved and less variable glycaemic profile.

  • This case suggests that LCDs in T1DM may not be associated with a concerning supraphysiological ketonaemia.

Open access
Debby Christiana Soemitha Department of Internal Medicine, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

Search for other papers by Debby Christiana Soemitha in
Google Scholar
PubMed
Close
,
Deshinta Putri Mulya Division of Allergy and Immunology, Department of Internal Medicine, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

Search for other papers by Deshinta Putri Mulya in
Google Scholar
PubMed
Close
, and
Hemi Sinorita Division of Endocrinology, Metabolism and Diabetes, Department of Internal Medicine, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

Search for other papers by Hemi Sinorita in
Google Scholar
PubMed
Close

Summary

Diabetes foot ulcer (DFU) is a common long-term complication of diabetes. Intractable chronic wounds to standard care of diabetic foot raise the question of whether other factors intervene in disease development. We report a case of a 54-year-old male patient who came to Sardjito General Hospital with leg pain and previous history of multiple debridement and amputation for DFU referred from a remote hospital yet no improvement was evident in the surrounding lesion following treatment. Consequently, a histopathological examination was carried out proving the presence of other aetiologic factors, vasculitis and panniculitis existing in the lesion. In this case, we report a rare type of causative factor of foot ulcers among diabetic patients. Vasculitis suspected for polyarteritis nodosa accompanied by panniculitis is considered in this patient. The treatment of choice is corticosteroids or immunosuppressants based on the clinical condition, contrary to usual wound care in DFU. Based on the evidence, clinicians need to consider other causes than only macrovascular complications in a diabetic patient with DFU that is intractable to standard wound care. In this patient, vasculitis may be considered in forming diabetic foot ulcers alongside macrovascular complications.

Learning points

  • A thorough examination is essential to rule out other processes in intractable DFU patients.

  • Prompt management based on proper diagnosis is crucial to prevent peripheral arterial disease complications.

  • Vasculitis and macrovascular complication are inseparable processes forming DFU in this patient.

Open access
Isabelle van Heeswijk Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

Search for other papers by Isabelle van Heeswijk in
Google Scholar
PubMed
Close
,
Antonia Ugur Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

Search for other papers by Antonia Ugur in
Google Scholar
PubMed
Close
,
Lynsey Havill Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

Search for other papers by Lynsey Havill in
Google Scholar
PubMed
Close
,
Rebecca Kinton Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

Search for other papers by Rebecca Kinton in
Google Scholar
PubMed
Close
, and
David Hughes Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

Search for other papers by David Hughes in
Google Scholar
PubMed
Close

Summary

Calciphylaxis is a rare disorder characterised by the development of painful necrotic skin lesions. Occlusion of cutaneous arterioles due to ectopic calcification leads to potentially life-threatening widespread skin loss. Most cases occur in patients with chronic renal disease, which leads to dysregulation of calcium and phosphate homeostasis. Only a handful of case reports exist describing calciphylaxis occurring in patients without chronic renal disease but with hypoparathyroidism. We report on a unique case of a 53-year-old man with multiple endocrine neoplasia type 1 syndrome and acquired hypoparathyroidism due to total parathyroidectomy who went on to develop calciphylaxis following cardiac surgery.

Learning points

  • Calciphylaxis most commonly occurs in the context of chronic renal disease but can rarely occur in its absence as a consequence of calcium and phosphate dysregulation.

  • Patients who develop necrotic skin lesions in the presence of hypoparathyroidism require an urgent dermatological opinion.

  • Mortality from calciphylaxis is high, with the majority of deaths occurring secondary to sepsis.

  • Management of calciphylaxis requires a multidisciplinary team approach to manage wound healing, infections and pain.

  • Recovery with full rehabilitation from calciphylaxis can take months to years.

Open access
Natalie Below Diabetes Centre, Gartnavel General Hospital, Glasgow, UK
University of Glasgow, Glasgow, UK

Search for other papers by Natalie Below in
Google Scholar
PubMed
Close
,
Deborah Morrison Diabetes Centre, Gartnavel General Hospital, Glasgow, UK

Search for other papers by Deborah Morrison in
Google Scholar
PubMed
Close
,
Ruth McGowan West of Scotland Centre for Genomic Medicine, Glasgow, UK

Search for other papers by Ruth McGowan in
Google Scholar
PubMed
Close
, and
Gregory C Jones Diabetes Centre, Gartnavel General Hospital, Glasgow, UK

Search for other papers by Gregory C Jones in
Google Scholar
PubMed
Close

Summary

A 20-year-old South Asian male presented with polyuria, polydipsia, HbA1c 81 mmol/mol, BMI 28.8 and family history of both type 1 and type 2 diabetes mellitus. As autoantibody testing was negative and c-peptide level demonstrated significant endogenous insulin secretion, type 1 diabetes was excluded. Given his age and family history, the differential diagnosis included maturity-onset diabetes of the young (MODY), a rare form of diabetes caused by a single-gene variant. A high probability of MODY was calculated and he was subsequently referred for genetic testing. Although a useful tool, the pre-test probability calculator for MODY is only validated in White Europeans. A heterogenous variant of unknown clinical significance of the NEUROD1 gene was detected, leading to gliclazide use with poor response. The patient responded well to metformin. Type 2 diabetes was considered the most likely diagnosis. This case highlights the diagnostic challenges in young patients of Asian ethnicity and the importance of interpreting genetic results of unknown significance within the clinical context. Ethnicity-specific BMI thresholds should be used when classifying patients as overweight or obese.

Learning points

  • Variants of unknown significance detected by genetic sequencing should be interpreted within the context of the patient’s other clinical parameters.

  • It is important to use ethnicity-specific BMI thresholds for obesity.

  • Diagnosis of type 2 diabetes mellitus at younger ages is becoming increasingly common.

  • The pre-test probability calculator for MODY is only validated in White Europeans; although a useful guide, results should be interpreted with caution in patients of other ethnicities.

Open access
Anne Cathrine Parelius Wammer Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway

Search for other papers by Anne Cathrine Parelius Wammer in
Google Scholar
PubMed
Close
,
Ingrid Nermoen Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway
Institute of Clinical Medicine, University of Oslo, Oslo, Norway

Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed
Close
,
Per Medbøe Thorsby Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Hormone Laboratory, Department of Medical Biochemistry and Biochemical Endocrinology and Metabolism Research Group, Oslo University Hospital, Aker, Norway

Search for other papers by Per Medbøe Thorsby in
Google Scholar
PubMed
Close
,
Nils Bolstad Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway

Search for other papers by Nils Bolstad in
Google Scholar
PubMed
Close
,
Kari Lima Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway

Search for other papers by Kari Lima in
Google Scholar
PubMed
Close
,
Hoa Tran Department of Haematology, Akershus University Hospital, Lørenskog, Norway

Search for other papers by Hoa Tran in
Google Scholar
PubMed
Close
, and
Ivar Følling Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway
Institute of Clinical Medicine, University of Oslo, Oslo, Norway

Search for other papers by Ivar Følling in
Google Scholar
PubMed
Close

Summary

We present a young woman with treatment resistant insulin autoimmune syndrome (IAS) with a protracted course. Her serum insulin level was 6945 pmol/l (<160), C-peptide 4042 pmol/L (<1480), anti-insulin antibodies 5305 U/mL (<0.4) were monoclonal IgG kappa. After 12 h of fasting, her blood glucose fell to 1.2 mmol/L. Post-meal blood glucose peaked at 12.2 mmol/L with reactive hypoglycaemia below 2 mmol/L. Frequent meals and continuous blood glucose monitoring were helpful, but further treatments advocated in the literature with prednisolone, rituximab, plasmapheresis, cyclophosphamide and ciclosporin were without beneficial effect.

Based on this case and a review of the literature, we propose that IAS is not one but two different diseases with different therapeutic strategies. The first disease, polyclonal IAS, predominates in Asia and is characterized by polyclonal anti-insulin antibodies, association with certain HLA genotypes and other autoimmune conditions, medications and viral infections possibly triggering the disease, a possible female predominance among young patients and a tendency towards spontaneous remission. The other disease, monoclonal IAS, predominates in Caucasians. Typical features are monoclonal anti-insulin antibodies, only weak HLA association, no drug predisposition, no sex difference, rare remission and conventional therapy often being without any clinical effect. We suggest that monoclonal IAS with IgG or IgA anti-insulin antibodies should receive therapy targeting plasma cells rather than lymphocytes.

Learning points

  • IAS may be considered as two separate diseases, polyclonal and monoclonal.

  • The presence of either polyclonal or monoclonal antibodies should determine the choice of treatment for IAS.

  • In polyclonal IAS, discontinuation of a triggering medication and treatment of triggering conditions should be the backbone of therapy.

  • Monoclonal IAS should receive treatment targeting plasma cells.