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Paediatric Anaesthesia Jan 2018Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve. Cardiac disease develops early in life, with progressive hypertrophic cardiomyopathy as a result of hyperinsulinism. Prognosis is poor with the majority of patients dying in infancy of sepsis. The aim of this review is to report our experience of providing anesthesia for patients with Donohue syndrome, and inform guidance for safe management of these children, based on a comprehensive literature review.
METHODS
A literature search was carried out using PubMed, Medline, and the Cochrane Library, and using the MESH search terms detailed below. Patients were identified by formal request to the department of pediatric endocrinology at Great Ormond Street Hospital. Each patient's notes were searched manually and electronically for both clinical presentation and outcome, and anesthesia records.
DISCUSSION
There is currently no published literature relating to anesthetic management of Donohue syndrome. We report a case series of 5 patients with Donohue syndrome who have presented to our institution. This small series of children with this complex disorder demonstrates a clearly increased risk of general anesthesia. Many of the risks relate to restrictive lung disease and abdominal distension which worsens with bag valve mask ventilation and limited respiratory reserve which leads to precipitous desaturation. During induction, a spontaneously breathing technique is recommended. If required, bag valve mask ventilation should be accompanied by constant gastric aspiration. Intubation is challenging, and a difficult airway plan, including a second experienced anesthetist and ENT support, should be in place. These children are predisposed to developing cardiomyopathy and therefore at risk of cardiovascular collapse under anesthesia.
Topics: Anesthesia; Cardiomyopathy, Hypertrophic; Donohue Syndrome; Humans; Infant; Infant, Newborn; Insulin Resistance; Sepsis
PubMed: 29148123
DOI: 10.1111/pan.13273 -
Endocrine Journal Feb 2022This report of a working group established by the Japan Diabetes Society proposes a new classification and diagnostic criteria for insulin resistance syndrome. Insulin...
This report of a working group established by the Japan Diabetes Society proposes a new classification and diagnostic criteria for insulin resistance syndrome. Insulin resistance syndrome is defined as a condition characterized by severe attenuation of insulin action due to functional impairment of the insulin receptor or its downstream signaling molecules. This syndrome is classified into two types: genetic insulin resistance syndrome, caused by gene abnormalities, and type B insulin resistance syndrome, caused by autoantibodies to the insulin receptor. Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. Type B insulin resistance syndrome is characterized by severe impairment of insulin action due to the presence of insulin receptor autoantibodies. Cases in which hypoglycemia alone is induced by autoantibodies that stimulate insulin receptor were not included in Type B insulin resistance syndrome.
Topics: Diabetes Mellitus; Donohue Syndrome; Humans; Hypoglycemia; Insulin Resistance; Metabolic Syndrome; Receptor, Insulin
PubMed: 35110500
DOI: 10.1507/endocrj.EJ21-0725 -
The Journal of Clinical Endocrinology... May 2012
Topics: Donohue Syndrome; Fatal Outcome; Female; Humans; Infant
PubMed: 22399506
DOI: 10.1210/jc.2011-3215 -
Indian Pediatrics Aug 2015
Topics: Donohue Syndrome; Fatal Outcome; Female; Humans; Infant, Newborn
PubMed: 26388649
DOI: No ID Found -
American Journal of Diseases of... Oct 1973
Topics: Abnormalities, Multiple; Child, Preschool; Dwarfism; Female; Glucose Tolerance Test; Growth Hormone; Humans; Intellectual Disability; Israel; Lipodystrophy; Progeria; Serum Globulins; Syndrome; gamma-Globulins
PubMed: 4131563
DOI: 10.1001/archpedi.1973.02110190410011 -
The Journal of Pediatrics Feb 1965
Topics: Donohue Syndrome; Endocrine System Diseases; Genetics, Medical; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Pathology
PubMed: 14258927
DOI: 10.1016/s0022-3476(65)80195-0 -
European Journal of Pediatrics Apr 1997
Review
Topics: Abnormalities, Multiple; Female; Growth Disorders; History, 20th Century; Humans; Infant, Newborn; Insulin Resistance; Receptor, Insulin; Syndrome
PubMed: 9128805
DOI: 10.1007/s004310050594 -
Problemy Endokrinologii Jun 2022Donohue syndrome (DS), also called Leprechaunism, is the most severe form of insulin resistance associated with biallelic mutations in INSR gene (OMIM: 147670). The...
Donohue syndrome (DS), also called Leprechaunism, is the most severe form of insulin resistance associated with biallelic mutations in INSR gene (OMIM: 147670). The approximate incidence of this syndrome is 1 per 1000000 births. Patients are present with typical clinical features such as intrauterine growth retardation, facial dysmorphism, severe metabolic disturbances, hepatomegaly and hypertrophic cardiomyopathy. Most DS patients die within the first two years of life due to respiratory infections, severe hypoglycemia or progressive cardiomyopathy. Treatment options are limited and no specific therapy exist for DS. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance including DS.We report the case of a male patient with genetically confirmed Donohue syndrome, successfully treated with continuous subcutaneous IGF1 infusion via insulin pump. We observed improvement of glycemic control, liver function and cardiac hypertrophy regression following 15-month IGF1 therapy.
Topics: Humans; Male; Donohue Syndrome; Insulin-Like Growth Factor I; Insulin Resistance; Receptor, Insulin; Insulin
PubMed: 36337021
DOI: 10.14341/probl13121