Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design: Retrospective analysis of the Italian data set of patients with TNDM. Methods: Clinical features and treatment of 22 KATP/ TNDM patients and 12 6q24/TNDM patients were compared. Results: Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (p=0.009 and p=0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 vs 12 weeks) (p=0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.
We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the majority of patients with chromosome 4 long arm syndrome have de novo deletions and only few familial cases have been reported so far.
Submit Manuscript | http://medcraveonline.com (>99° percentile), height=110 cm, (BMI=41); the heart sounds were normal, a 2/6 Levine murmur was audible on the right sternal border; the breath sounds were diminished bilaterally, the peripheral oxygen saturation was 80%. The arterial blood gas analysis (ABG) revealed respiratory alkalosis (pH=7, 50), pO 2 =93 mmHg, pCO 2 =30mmHg. Endo-tracheal intubation and mechanical ventilation with 100% oxygen was necessary, furthermore a venous central catheter was placed into the right femoral vein. The chest X-ray study revealed bilateral infiltrates. Since a pneumonia was suspected the patient was treated with antibiotics (Teicoplanin and Ceftriaxone). Over six days, as the clinical conditions improved and the child was estubated, the venous central catheter was removed and she was transferred to the Pediatric Clinic. After one day the conditions suddenly worsened with dyspnea and signs of deep-vein thrombosis of the right limb, which was swollen and warm. Doppler ultrasound scan showed femoro-popliteal deep venous thrombosis. The echocardiography revealed a mildly dilatation of right ventricle and of inferior vena cava. Color -Doppler examination demonstrated a moderatesevere tricuspidal regurgitation, with a high atrio-ventricular peak pressure gradient (65 mmHg).D-dimer was sevenfold the upper limit. A second chest radiograph showed a mild left pleural effusion. Because P.E. was suspected the patient underwent a contrast enhanced computed tomography (CT) of the thorax that demonstrated clots into the upper and lower lobar right pulmonary arteries (Figure 1). The girl was treated with LMWH followed by warfarin with resolution of symptoms. Further laboratory tests for thrombophilia screening revealed methylene tetrahydrofolate reductase heterozygotes mutation with normal homocysteine plasma level and heterozygotes mutation of the Factor II (G20210A). The patient was discharged from hospital on oral anticoagulant therapy for six months and with a hypo-caloric diet.The second patient was a 10-years-old girl, affected by mental retardation and tetraplegia due to neonatal hypoxemia. Initially, he was admitted to nephrology department for anuria, elevated creatine (3mg/dL) and pedal swelling. Physical examination revealed a diaphoretic and tachypneic patient, with a heart rate of 140 beats/min, the pulse oxygen saturation in room air was 88% and failed to rise under supplemental oxygen (3 L/ min with nasal cannula), severe hypotension (systolic blood pressure <90mmHg), the heart sounds were normal while the breath sounds were diminished bilaterally, moreover jugular veins distension was noted. The ABG showed metabolic acidosis (pH = 7.2 and low bicarbonates =16 mmol/L), hypoxemia (pO 2 = 50 mmHg) and hypocapnia (pO 2 = 32 mmHg). Tachycardia and hypotension prompted an echocardiogram that showed dilatation and dysfunction of right ventricle, mild dilatation of inferior vena cava and moderate tricuspid insufficiency, with a peak velocity of 3, 3 m/s, which predicts a systolic pu...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.