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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The combination of juvenile diabetes mellitus, optic atrophy, perceptive hearing loss, diabetes insipidus and atonia of the urinary tract and bladder seems to constitute a distinct syndrome. In certain cases delayed puberty is also mentioned but this has not been considered as part of the syndrome.
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PMID:Complex syndrome in a young girl: Wolfram's syndrome? 735 63

The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and sensorineural deafness (D) is known as DIDMOAD or Wolfram syndrome. Aside from these four cardinal features, a wide variety of abnormalities of the nervous system, urinary tract and endocrine glands have been described in this syndrome. In this report, the clinical features of six patients with DIDMOAD syndrome are presented. All six patients had DM. Five of the six patients had DI, five OA and five displayed abnormal audiogram findings. In addition, two had goiter, two delayed puberty, one seizure and one mental retardation with depression attacks. Urinary tract dilatation was recorded in five patients. Four patients developed typical complications of DM. One of them had overt nephropathy and arthropathy despite the short duration of DM. In addition, this patient had diabetic retinopathy, which is considered to be rare in this syndrome.
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PMID:Various clinical aspects of DIDMOAD (Wolfram) syndrome. 750 61

Two first cousins both suffering from insulin dependent diabetes mellitus since early childhood developed progressive optic atrophy from the age of 5 and 9 years respectively. They had similar ophthamological features which include optic atrophy with cupping, paracentral scotomata, and total achromatopsia. One patient also had stunted growth, delayed puberty and psychiatric disorder. Neither had diabetes insipidus and deafness. It is suggested that they may be a variant of DIDMOAD (Diabetes Insipidus, Juvenile Diabetes Mellitus, Optic Atrophy, Deafness).
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PMID:Progressive optic atrophy associated with juvenile diabetes mellitus: report of two cases among first cousins. 826 10

Celiac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. It occurs in children and adolescents with gastrointestinal symptoms, dermatitis herpetiformis, dental enamel defects, osteoporosis, short stature, delayed puberty and persistent iron deficiency anemia and in asymptomatic individuals with type 1 diabetes, Down syndrome, Turner syndrome, Williams syndrome, selective immunoglobulin (Ig)A deficiency and first degree relatives of individuals with celiac disease. The Celiac Disease Guideline Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition has formulated a clinical practice guideline for the diagnosis and treatment of pediatric celiac disease based on an integration of a systematic review of the medical literature combined with expert opinion. The Committee examined the indications for testing, the value of serological tests, human leukocyte antigen (HLA) typing and histopathology and the treatment and monitoring of children with celiac disease. It is recommended that children and adolescents with symptoms of celiac disease or an increased risk for celiac disease have a blood test for antibody to tissue transglutaminase (TTG), that those with an elevated TTG be referred to a pediatric gastroenterologist for an intestinal biopsy and that those with the characteristics of celiac disease on intestinal histopathology be treated with a strict gluten-free diet. This document represents the official recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition on the diagnosis and treatment of celiac disease in children and adolescents.
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PMID:Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. 1562 18

This paper is a literature review of puberty in certain chronic diseases. Abnormal puberty is often reported in children suffering from many chronic diseases, for example: asthma, cystic fibrosis, type 1 diabetes mellitus, inflammatory diseases, children with visual and hearing impairment, and others. Delay in the onset and progression through puberty have a deleterious effect on the normal pubertal growth spurt and contribute to the deficit in final adult height. Malnutrition, toxic substances, side effects of chronic therapy, emotional deprivation and stress are the most important mechanisms responsible for delayed puberty. Delayed puberty and growth failure frequently complicate the clinical course of this children. However, few studies confirm earlier puberty in children with sense organ impairment than in healthy children. The more severe the impairment of the sense organ, the earlier was the age at puberty--the earliest age at menarche was observed in deaf girls and blind girls. The earlier age of puberty may be the outcome of therapies applied during the treatments such as radiation of the central nervous system or surgeries. Further studies are needed to determine how growth and puberty in children with chronic illness are affected by clinical practice.
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PMID:[Puberty in certain chronic illness]. 2038 85

Mauriac syndrome is a rare condition that affects people with uncontrolled diabetes. The case history of a 17-year-old female patient diagnosed with Mauriac syndrome and concurrently suffering from type 1 diabetes mellitus (T1DM), stunted growth, hepatomegaly, and severe periodontal disease is described. Non-surgical periodontal therapy was the treatment provided. Severe periodontal destruction was seen in conjunction with the unique features of this syndrome, such as hepatomegaly, dwarfism, moon-shaped face, cushingoid fat deposition, delayed puberty, and brittle diabetes. Treatment resulted in decreased plaque and gingival scores. A bi-directional relationship has been established between diabetes mellitus and periodontal disease and there is an increasing emphasis on perio-systemic interrelationships. Given the effect that such systemic disorders have on periodontal health, periodontists should be involved in the early diagnosis and treatment of such patients.
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PMID:Periodontal findings in a patient with Mauriac syndrome: a case report. 2241 89

Mauriac syndrome is associated with poor metabolic control of type 1 diabetes mellitus, hepatomegaly and elevated transaminases characterized by growth failure and delayed puberty, which may be reversible with good glycemic control. There are few references published in recent years following the introduction of glycemic self-monitoring, new insulins and intensified treatment. We describe a series of five patients evaluated in our service with Mauriac syndrome characteristics, conducting a literature review of cases in Argentina.
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PMID:[Mauriac syndrome in Argentina in the XXI century: series of 5 cases]. 2458 99

Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of hepatic glycogenosis mimicking Mauriac syndrome. A 14-year-old girl with poorly controlled type 1 DM was admitted to The Catholic University of Korea, Seoul St. Mary's Hospital for abdominal pain and distension. Physical examination revealed hepatomegaly and a Cushingoid face. The growth rate of the patient had decreased, and she had not yet experienced menarche. Laboratory findings revealed elevated liver enzyme levels. A liver biopsy confirmed hepatic glycogenosis. Continuous glucose monitoring showed hyperglycemia after meals and frequent hypoglycemia before meals. To control hyperglycemia, we increased insulin dosage by using an insulin pump. In addition, we prescribed uncooked cornstarch to prevent hypoglycemia. After strict blood glucose control, the patient's liver functions and size normalized. The patient subsequently underwent menarche. Hepatic glycogenosis is a complication of type 1 DM that is reversible with appropriate glycemic control.
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PMID:Hepatic glycogenosis in type 1 diabetes mellitus mimicking Mauriac syndrome. 2621 53

Coeliac disease is an autoimmune condition caused by the ingestion of gluten-containing foods and affects about 1% of children and young people in the UK. Classic symptoms include diarrhoea, bloating, weight loss and abdominal pain. However, extra-intestinal manifestations, such as iron deficiency anaemia, faltering growth, delayed puberty and mouth ulcers, are increasingly being recognised. Some children have an increased risk of developing coeliac disease, such as a strong family history, certain genetic conditions and type 1 diabetes, therefore there is a need for increased awareness and early diagnosis before symptoms occur. If coeliac disease is suspected, a child should have serological screening with anti-tissue transglutaminase titres. Diagnosis is traditionally confirmed by a small bowel biopsy while the child remains on a 'normal' diet that does not exclude gluten. More recently, for a selective group of children, modification of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines has enabled non-biopsy (serological) diagnosis of coeliac disease. Children's nurses have an important role in recognising and diagnosing coeliac disease earlier as well as offering ongoing dietary support. Enabling children to maintain a gluten-free diet is essential for general wellbeing and preventing long-term complications.
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PMID:Diagnosis and nursing management of coeliac disease in children. 2685 74

A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with Mauriac syndrome whose liver extended into his pelvis. Glycogen phosphorylase kinase activates glycogen phosphorylase, the enzyme that catalyzes the first step in glycogen breakdown. We show that the mutant subunit acts in a dominant manner to completely inhibit glycogen phosphorylase kinase enzyme activity and that this interferes with glycogenolysis causing increased levels of glycogen in human liver cells. It is known that even normal blood glucose levels physiologically inhibit glycogen phosphorylase to diminish glucose release from the liver when glycogenolysis is not needed. The patient's mother possessed the same mutant glycogen phosphorylase kinase subunit, but did not have diabetes or hepatomegaly. His father had childhood type 1 diabetes in poor glycemic control, but lacked the mutation and had neither hepatomegaly nor growth failure. This case proves that the effect of a mutant enzyme of glycogen metabolism can combine with hyperglycemia to directly hyperinhibit glycogen phosphorylase, in turn blocking glycogenolysis causing the massive liver in Mauriac disease.
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PMID:Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes. 2720 49


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