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1.
Am J Med Genet A ; 194(6): e63533, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38234231

RESUMO

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.


Assuntos
Lipodistrofia Generalizada Congênita , Proteínas de Ligação a RNA , Humanos , Masculino , Feminino , Lipodistrofia Generalizada Congênita/genética , Lipodistrofia Generalizada Congênita/complicações , Lipodistrofia Generalizada Congênita/patologia , Adolescente , Criança , Lactente , Pré-Escolar , Adulto , Adulto Jovem , Arritmias Cardíacas/genética , Arritmias Cardíacas/patologia , Hipertrigliceridemia/genética , Hipertrigliceridemia/complicações , Hipertrigliceridemia/patologia
2.
Endocr Res ; 44(1-2): 46-54, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30182761

RESUMO

Purpose/Aim of the study: Acquired partial lipodystrophy (APL) is a rare disease characterized by selective loss of adipose tissue. In this study, we aimed to present a subset of patients with APL, who developed severe metabolic abnormalities, from our national lipodystrophy registry. MATERIALS AND METHODS: Severe metabolic abnormalities were defined as: poorly controlled diabetes (HbA1c above 7% despite treatment with insulin more than 1 unit/kg/day combined with oral antidiabetics), severe hypertriglyceridemia (triglycerides above 500 mg/dL despite treatment with lipid-lowering drugs), episodes of acute pancreatitis, or severe hepatic involvement (biopsy-proven non-alcoholic steatohepatitis (NASH)). RESULTS: Among 140 patients with all forms of lipodystrophy (28 with APL), we identified 6 APL patients with severe metabolic abnormalities. The geometric mean for age was 37 years (range: 27-50 years; 4 females and 2 males). Five patients had poorly controlled diabetes despite treatment with high-dose insulin combined with oral antidiabetics. Severe hypertriglyceridemia developed in five patients, of those three experienced episodes of acute pancreatitis. Although all six patients had hepatic steatosis at various levels on imaging studies, NASH was proven in two patients on liver biopsy. Our data suggested that APL patients with severe metabolic abnormalities had a more advanced fat loss and longer disease duration. CONCLUSIONS: We suggest that these patients represent a potential subgroup of APL who may benefit from metreleptin or investigational therapies as standard treatment strategies fail to achieve a good metabolic control.


Assuntos
Diabetes Mellitus/etiologia , Hipertrigliceridemia/etiologia , Lipodistrofia/complicações , Hepatopatia Gordurosa não Alcoólica/etiologia , Pancreatite/etiologia , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
3.
Med Princ Pract ; 26(4): 325-330, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28437786

RESUMO

OBJECTIVE: To investigate the effect of insulin pump user retraining on treatment success, quality of life, and metabolic parameters of patients with type 1 diabetes using continuous subcutaneous insulin infusion. SUBJECTS AND METHODS: A total of 35 subjects participated in this prospective study. All patients were given insulin pump user retraining. Their knowledge level and application skills, metabolic parameters, quality of life, and satisfaction from treatment were evaluated at baseline and after 6 months. RESULTS: There was significant improvement in patients' knowledge and application skills after insulin pump user retraining (self-assessment of user skills: 69.7 ± 11.5 vs. 76.3 ± 11.3, p < 0.001; knowledge level on technical issues: 3.3 ± 1.1 vs. 4.1 ± 1.8, p = 0.003; glucose monitoring: 27.1 ± 5.8 vs. 29.2 ± 5.6, p = 0.006; management of hyperglycemia: 13.1 ± 3.2 vs. 15.7 ± 3.4, p < 0.001; management of pump and infusion site problems: 8.8 ± 2.6 vs. 10.6 ± 2.6, p = 0.001). Hemoglobin (Hb)A1c levels of patients with poor glycemic control improved after retraining (8.61% ± 0.78 vs. 8.23% ± 0.79, p = 0.02). However, no significant improvement in quality of life and treatment satisfaction parameters were found. CONCLUSION: Management of type 1 diabetes in insulin pump users can be significantly improved by retraining. Even a basic short-term retraining program helps patients to increase their knowledge level and ability to more effectively use the insulin pump. The fact that retraining significantly improves glycemic parameters in patients with poor metabolic control indicates that priority should be given to this group of patients. Further studies with individualized training programs in larger sample sizes with long-term follow-up are needed to establish the importance of retraining and create re-education plans for patients with type 1 diabetes using an insulin pump.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Sistemas de Infusão de Insulina , Educação de Pacientes como Assunto/métodos , Adulto , Glicemia , Diabetes Mellitus Tipo 1/sangue , Feminino , Hemoglobinas Glicadas/análise , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Estudos Prospectivos , Qualidade de Vida , Inquéritos e Questionários , Resultado do Tratamento , Turquia , Adulto Jovem
4.
Minerva Endocrinol (Torino) ; 48(3): 305-310, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32623842

RESUMO

BACKGROUND: The aim of this study was to determine relationships between microvascular complications of type 2 diabetes mellitus (T2DM) and trace element levels measured by ICP-MS. METHODS: One hundred eighteen patients with T2DM (age: 30-65 years) and 40 control subjects were included in the study. The T2DM patients were divided into three groups according to their types of microvascular complications. Patients in group 1 (N.=40) had no microvascular complications. Group 2 included 38 patients with only diabetic retinopathy. Group 3 included 40 patients with diabetic retinopathy and nephropathy. Trace elements, including chromium (Cr), copper (Cu), and zinc (Zn), were measured by inductively coupled plasma mass spectrophotometry (ICP-MS). RESULTS: Mg levels analyzed by ICP-MS were lower in patients with T2DM than in healthy subjects. Additionally, Mg level of 2.1 mg/dL or less was found to be predictive for risk of occurrence of T2DM with no microvascular complications. Cr levels were significantly lower in T2DM patients with diabetic retinopathy and diabetic nephropathy than in T2DM patients with no microvascular complications. Additionally, levels of Cr were much lower significantly in group 3 than in group 2. The predictive value of Cr levels (area under the curve [AUC]=0.734, P=0.007) for occurrence of diabetic retinopathy was 15.2 µg/L (sensitivity = 70%; specificity = 60.5%). CONCLUSIONS: This study showed an association between especially low Mg and Cr levels measured via ICP-MS and microvascular complications in patients with T2DM.


Assuntos
Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Oligoelementos , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Diabetes Mellitus Tipo 2/complicações , Retinopatia Diabética/epidemiologia , Retinopatia Diabética/etiologia , Zinco , Cobre , Cromo
5.
Prim Care Diabetes ; 10(4): 293-9, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26776282

RESUMO

OBJECTIVE: Partial lipodystrophy of the limbs (PLL) is a newly described form of lipodystrophy that is characterized by symmetrical distal lipoatrophy of the limbs and insulin resistant diabetes. RESEARCH DESIGN AND METHODS: In this study, we prospectively screened our patients with type 2 diabetes for the presence of PLL phenotype. Metabolic parameters of PLL patients were compared to those with type 2 diabetes who applied to our diabetes clinic during the same period of time. RESULTS: Between Sep 2013 and Mar 2015, 2020 patients with type 2 diabetes were evaluated for the presence of PLL. PLL was confirmed in 16 patients. The prevalence of PLL was calculated as 0.79% in our diabetes clinic. The most common phenotypic presentations were loss of subcutaneous fat in the forearms, calves and thighs, and loss of fat in forearms and calves. Patients with PLL had poor metabolic control and marked insulin resistance compared to subjects with type 2 diabetes. Diabetes had been diagnosed at a younger age in patients with PLL. Patients with PLL also had more atherogenic lipid profiles. CONCLUSIONS: Our data suggests that PLL is a relatively common form of lipodystrophy in diabetes clinics, which is associated with poor metabolic control and marked insulin resistance. The recognition of PLL in patients with type 2 diabetes can help better clinical management by alerting the physician to these associated co-morbidities.


Assuntos
Adiposidade , Instituições de Assistência Ambulatorial , Diabetes Mellitus Tipo 2/epidemiologia , Lipodistrofia/epidemiologia , Gordura Subcutânea/fisiopatologia , Adulto , Idoso , Biomarcadores/sangue , Glicemia/metabolismo , Comorbidade , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/fisiopatologia , Extremidades , Feminino , Humanos , Resistência à Insulina , Lipídeos/sangue , Lipodistrofia/sangue , Lipodistrofia/diagnóstico por imagem , Lipodistrofia/fisiopatologia , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Fenótipo , Prevalência , Estudos Prospectivos , Fatores de Risco , Gordura Subcutânea/diagnóstico por imagem , Fatores de Tempo , Turquia/epidemiologia
6.
J Clin Endocrinol Metab ; 101(7): 2759-67, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27144933

RESUMO

CONTEXT: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. OBJECTIVE: We aimed to study natural history and disease burden of various subtypes of CGL. DESIGN: We attempted to ascertain nearly all patients with CGL in Turkey. SETTING: This was a nationwide study. PATIENTS OR OTHER PARTICIPANTS: Participants included 33 patients (22 families) with CGL and 30 healthy controls. MAIN OUTCOME MEASURE(S): We wanted to ascertain genotypes by sequencing of the known genes. Whole-body magnetic resonance imaging was used to investigate the extent of fat loss. Metabolic abnormalities and end-organ complications were measured on prospective follow-up. RESULTS: Analysis of the AGPAT2 gene revealed four previously reported and four novel mutations (CGL1; c.144C>A, c.667_705delinsCTGCG, c.268delC, and c.316+1G>T). Analysis of the BSCL2 gene revealed four different homozygous and one compound heterozygous possible disease-causing mutations (CGL2), including four novel mutations (c.280C>T, c.631delG, c.62A>T, and c.465-468delGACT). Two homozygous PTRF mutations (c.481-482insGTGA and c.259C>T) were identified (CGL4). Patients with CGL1 had preservation of adipose tissue in the palms, soles, scalp, and orbital region, and had relatively lower serum adiponectin levels as compared to CGL2 patients. CGL4 patients had myopathy and other distinct clinical features. All patients developed various metabolic abnormalities associated with insulin resistance. Hepatic involvement was more severe in CGL2. End-organ complications were observed at young ages. Two patients died at age 62 years from cardiovascular events. CONCLUSIONS: CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.


Assuntos
Lipodistrofia Generalizada Congênita/patologia , Aciltransferases/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Análise Mutacional de DNA , Progressão da Doença , Feminino , Subunidades gama da Proteína de Ligação ao GTP/genética , Humanos , Lactente , Resistência à Insulina , Lipodistrofia Generalizada Congênita/complicações , Lipodistrofia Generalizada Congênita/diagnóstico , Lipodistrofia Generalizada Congênita/genética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Prognóstico , Turquia , Adulto Jovem
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