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Clinical and laboratory characteristics and follow up of 62 cases of ketotic hypoglycemia: a retrospective study.

ABSTRACT: Introduction:Idiopathic ketotic hypoglycemia (KH) is the most common cause of hypoglycemia in non-diabetic children ages 0.5-6?years old and typically occurs after a period of poor food intake. There are no large studies looking at the value of common laboratory testing in children presenting with KH or how often other diagnoses are made. Objectives:To examine the clinical presentations and the value of laboratory testing done in a cohort of children clinically diagnosed with KH. Methods:Billing records were searched from 2008 to 2017 for patients seen by the endocrine service for "hypoglycemia, not otherwise specified". Charts were reviewed to determine age, sex, presenting symptoms and testing ordered at the time of the consult. Through chart reviews after the event and parent phone calls, diagnoses other than idiopathic KH were searched. Results:Of 150 charts reviewed, 62 had sufficient information to make a clinical diagnosis of KH (32 males 30 females, mean age 2.9?years). Most had a history of gastrointestinal illness or prolonged fasting but 29% had no apparent precipitating event. Laboratory testing was quite variable and while low serum CO2 was seen in over half, no routine hormone testing, metabolic testing or supervised fasting resulted in a relevant diagnosis. We identified 4 out of 62 (6.5%) with relevant diagnoses which explained KH, including one child with failure to thrive found to have growth hormone (GH) deficiency and 3 by genetic testing, including one case of GSD type 9?, but all had atypical presentations. Conclusions:In the typical setting of a healthy 0.5-6?year-old child with an uncomplicated episode of KH following poor food intake and a normal exam including growth, hormonal and metabolic testing can safely be deferred. However, frequent recurrences and atypical features should prompt further investigation. Trial registration:Not needed for a retrospective chart review study.

SUBMITTER: Kaplowitz P

PROVIDER: S-EPMC6825346 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Project description:BackgroundIn addition to inborn metabolic disorders, altered metabolic profiles were reported to be associated with the risk and prognosis of some non-metabolic diseases, while as a rare metabolic disease, the overall secondary metabolic spectrum in congenital hyperinsulinemic hypoglycemia (HH) is largely undetermined. Therefore, we investigated metabolic profiles in HH patients and used ketotic hypoglycemia (KH) patients as a control cohort to unveil their distinct metabolic features.MethodsA total of 97 hypoglycemia children, including 74 with hyperinsulinemic hypoglycemia and 23 with ketotic hypoglycemia, and 170 euglycemia control subjects were studied retrospectively. Clinical and biochemical data were collected. The normoglycemic spectra of amino acids and acylcarnitines were determined by liquid chromatography tandem mass spectrometry. The serum insulin and fatty acid concentrations during standardized fasting tests in hypoglycemia patients were also collected. Receiver operating characteristic curve analysis was performed to screen potential biomarkers.ResultsAmong the normoglycemic spectra of amino acids, blood valine (p < 0.001), arginine (p < 0.001), threonine (p = 0.001), glutamate (p = 0.002), methionine (p = 0.005), ornithine (p = 0.008), leucine (p = 0.014), alanine (p = 0.017), proline (p = 0.031), citrulline (p = 0.042), aspartate (p = 0.046), and glycine (p = 0.048) levels differed significantly among the three groups. Significantly decreased levels of long- (C14:1, p < 0.001; C18, p < 0.001), medium- (C8, p < 0.001; C10, p < 0.001; C10:1, p < 0.001), and short-chain (C4-OH, p < 0.001; C5OH, p < 0.001) acylcarnitines were found in the hyperinsulinemic hypoglycemia group. Hyperinsulinemic hypoglycemia children with focal lesions and diffuse lesions had similar amino acid and acylcarnitine spectra. C10:1 < 0.09 μmol/L, threonine > 35 μmol/L, and threonine/C10:1 > 440 showed sensitivities of 81.1, 66.2, and 81.1% and specificities of 72.7, 78.3, and 81.8%, respectively, in distinguishing HH from KH.ConclusionsWe found significantly different altered serum amino acid and acylcarnitine profiles at normoglycemia, especially decreased C10:1 and increased threonine levels, between HH and KH children, which may reflect the insulin ketogenesis inhibition effect in HH patients; however, the detailed mechanisms and physiological roles remain to be studied in the future.

Project description:Introduction: Congenital myasthenic syndromes (CMS) refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are diverse regarding exercise intolerance and muscular weakness, varying from mild symptoms to life-limiting forms with neonatal onset. Long-term follow-up studies on disease progression and treatment-response in pediatric patients are rare. Patients and Methods: We analyzed retrospective clinical and medication data in a cohort of 32 CMS-patients including the application of a standardized, not yet validated test (CMS-ST) to examine muscular strength and endurance in 21 patients at the last follow-up. Findings obtained in our cohort were compared with long-term follow-up studies of (adult) CMS-cohorts from the literature by considering the underlying molecular mechanisms. Outcomes of CMS-ST were compared to results of normal clinical assessment. Results: Thirty-two pediatric patients with defects in eight different CMS-genes were followed by a median time of 12.8 years. Fifty-nine percentage of patients manifested with first symptoms as neonates, 35% as infants. While 53% of patients presented a reduced walking distance, 34% were wheelchair-bound. Even under adequate therapy with pyridostigmine (PS) and 3,4-diaminopyridine, CHAT-mutations led to the progression of muscular weakness partly in combination with persistent respiratory and bulbar symptoms. RAPSN, CHRND, and CHRNB1 patients with neonatal manifestation, early respiratory problems, and bulbar symptoms showed a good and maintained treatment response. CHAT and CHRNE patients required higher PS dosages, whereas RAPSN patients needed a lower mean dosage at the last follow-up. The benefits of short-term medication and long-term progression of symptoms were highly dependent on the specific genetic defect. CMS-ST was carried out in 17/21 patients, determined affected muscle groups including bulbar and ocular symptoms, some of which were not reported by the patients. Conclusions: Our findings and comparison with the literature- suggest a better treatment-response and less severe progression of symptoms present in patients suffering from mutations in CMS-genes directly associated with receptor deficiency, while patients with defects leading to synaptopathy and presynaptic defects tend to have worse outcomes. Assessment of affected muscular groups and clinical symptoms by CMS-ST may be a useful tool for optimal therapeutic management of the patients, especially for future clinical studies.

Project description:BackgroundWrist tuberculosis (TB) is a rare disease that may result in residual deformity, pain, or stiffness even after proper antitubercular chemotherapy (ATT) and surgical intervention. The aim of our study is to present clinical features and functional outcomes of wrist TB in a consecutive series of 84 adult patients with a minimum of 2 years of follow-up.MethodsClinical features and treatment outcomes of 84 consecutive adult patients with wrist TB from January 2003 to June 2018 including 45 men and 39 women, with a mean age of 46.8 years (18-84) were retrospectively analyzed. Data were collected on participants' demographic details. The primary outcome measures were QuickDASH score, grip strength, Visual Analogue Scale (VAS), and PRWHE. Secondary outcomes include health-related quality of life was evaluated using the EuroQol five-dimension five-level (EQ-5D-5L), assessment and postoperative complications of patients who underwent operation were also recorded.ResultsAll 84 patients with an average follow-up of 50.8 (24-105) months. The mean duration of symptoms before treatment was 10.5 months (2-21). There were 27 patients with bony and 57 with primarily soft-tissue involvement based on preoperative evaluation of plain radiographs and MRI. There were 33 patients treated with ATT and 51 patients were treated with surgery followed by ATT. Among them, 13 patients (15.5%) underwent incision and decompression, 14 patients (16.7%) underwent wrist synovectomy, 13 patients (15.5%) underwent wrist joint fusion by plate fixation, and 11 patients (13.1%) underwent wrist joint fusion by external fixation. At the last clinical visit, the QuickDASH, and PRWHE scores of all patients decreased significantly, the VAS improved from 5.9 to 1.4, EQ-5D-5L utility index improved from 0.36 to 0.88, EQ-VAS improved from 40.2 to 89.1. All patients indicated good wrist recovery at the last follow-up, and the treatment achieved satisfactory clinical outcomes.ConclusionThe onset of wrist TB is insidious; early diagnosis, good patient compliance, and surgery combined with ATT are crucial steps for treatment of wrist TB, and also essential for the patient's postoperative recovery. Wrist arthrodesis has achieved satisfactory results in the treatment of severe wrist TB.

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Clinical and laboratory characteristics and follow up of 62 cases of ketotic hypoglycemia: a retrospective study.

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