scholarly journals Pseudohypoaldosteronism type 1: clinical features and management in infancy

2013 ◽  
Vol 2013 ◽  
Author(s):  
N Amin ◽  
N S Alvi ◽  
J H Barth ◽  
H P Field ◽  
E Finlay ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Genetic Testing ◽  
Neonatal Period ◽  
Case Series ◽  
Electrolyte Imbalance ◽  
Sweat Test ◽  
Renal Ultrasound ◽  
List Type ◽  
Tract Infections

Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels. The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively. A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing. Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age. Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy. In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66 000 and 1:166 000 respectively.

P22 Using an elastomeric pump to administer continuous infusions of antibiotics as part of an outpatient parenteral antimicrobial therapy (opat) programme

2018 ◽  
Vol 103 (2) ◽  
pp. e2.25-e2
Author(s):  
David Sharpe ◽  
Claire Crouch ◽  
David Porter ◽  
Stephane Paulus
Keyword(s):  
Respiratory Tract ◽  
Central Venous Access ◽  
Good Practice ◽  
Mode Of Delivery ◽  
Case Series ◽  
British Society ◽  
List Type ◽  
Retrospective Case ◽  
Outpatient Parenteral Antimicrobial Therapy ◽  
Tract Infections

AimsContinuous intravenous infusion using an elastomeric pump is an alternative delivery method in paediatric patients who need intravenous antibiotics (IVAB) which would otherwise need to be administered three times daily, such as piperacillin/tazobactam or ceftazidime.1 We describe our experience using elastomeric pumps in the OPAT setting.MethodsA retrospective case series of 5 children (aged 5–17 years) discharged home on IVAB continuous infusion administered via an elastomeric pump. One child received this mode of delivery twice therefore 6 patient-episodes are described in this case series. Outcomes were assessed using the BSAC p-OPAT (British Society of Antimicrobial Chemotherapy Paediatric-OPAT) criteria. Ethics approval was not required because the information was gathered retrospectively and patient data has been anonymised.ResultsIn 5 of the episodes the indication was lower respiratory tract infection treated with continuous IV piperacillin/tazobactam. All patients had a background of neurodisability, recurrent respiratory tract infections and Pseudomonas aeruginosa carriage. The remaining patient was treated for an infective exacerbation of cystic fibrosis with a regimen that included continuous IV ceftazidime. All episodes had an outcome defined as ‘Success’ according to the BSAC p-OPAT criteria; having an infection outcome of ‘improved’ or ‘cured’ with no adverse events reported.ConclusionsThe successful outcomes in this case series suggest that elastomeric pumps are a safe and effective option for administering selected antibiotics by continuous IV infusion to children, although central venous access is a requirement. This option should be considered to facilitate the early discharge of patients to be treated with IVAB such as piperacillin/tazobactam under the guidance of an OPAT service.ReferencePatel S, Abrahamson E, Goldring S, Green H, Wickens H, Laundy M. Good practice recommendations for paediatric outpatient parenteral antibiotic therapy (p-OPAT) in the UK: A consensus statement. J Antimicrob Chemother2015;70(2):360–73.

scholarly journals Severe hypokalaemia in diabetic ketoacidosis: a contributor to central pontine myelinolysis?

2019 ◽  
Vol 2019 ◽  
Author(s):  
A Chinoy ◽  
N B Wright ◽  
M Bone ◽  
R Padidela
Keyword(s):  
Metabolic Acidosis ◽  
Diabetic Ketoacidosis ◽  
Serum Sodium ◽  
Management Strategies ◽  
Central Pontine Myelinolysis ◽  
Central Line ◽  
List Type ◽  
Pontine Myelinolysis ◽  
Central Pontine

Summary Hypokalaemia at presentation of diabetic ketoacidosis is uncommon as insulin deficiency and metabolic acidosis shifts potassium extracellularly. However, hypokalaemia is a recognised complication of the management of diabetic ketoacidosis as insulin administration and correction of metabolic acidosis shifts potassium intracellularly. We describe the case of a 9-year-old girl with newly diagnosed type 1 diabetes mellitus presenting in diabetic ketoacidosis, with severe hypokalaemia at presentation due to severe and prolonged emesis. After commencing management for her diabetic ketoacidosis, her serum sodium and osmolality increased rapidly. However, despite maximal potassium concentrations running through peripheral access, and multiple intravenous potassium ‘corrections’, her hypokalaemia persisted. Seventy two hours after presentation, she became drowsy and confused, with imaging demonstrating central pontine myelinolysis – a rare entity seldom seen in diabetic ketoacidosis management in children despite rapid shifts in serum sodium and osmolality. We review the literature associating central pontine myelinolysis with hypokalaemia and hypothesise as to how the hypokalaemia may have contributed to the development of central pontine myelinolysis. We also recommend an approach to the management of a child in diabetic ketoacidosis with hypokalaemia at presentation. Learning points: Hypokalaemia is a recognised complication of treatment of paediatric diabetic ketoacidosis that should be aggressively managed to prevent acute complications. Central pontine myelinolysis is rare in children, and usually observed in the presence of rapid correction of hyponatraemia. However, there is observational evidence of an association between hypokalaemia and central pontine myelinolysis, potentially by priming the endothelial cell membrane to injury by lesser fluctuations in osmotic pressure. Consider central pontine myelinolysis as a complication of the management of paediatric diabetic ketoacidosis in the presence of relevant symptoms with profound hypokalaemia and/or fluctuations in serum sodium levels. We have suggested an approach to the management strategies of hypokalaemia in paediatric diabetic ketoacidosis which includes oral potassium supplements if tolerated, minimising the duration and the rate of insulin infusion and increasing the concentration of potassium intravenously (via central line if necessary).

scholarly journals 17q12 Deletion Syndrome. A Rare Association Between Diabetes and Renal/Urogenital Abnormalities

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A355-A356
Author(s):  
Laura Sofia Perdomo ◽  
Juan Pablo Perdomo Rodriguez
Keyword(s):  
Genetic Testing ◽  
Renal Disease ◽  
Genetic Defect ◽  
Gene Mutations ◽  
Renal Cysts ◽  
Care Physician ◽  
Deletion Syndrome ◽  
Renal Ultrasound ◽  
Elevated Liver Enzymes ◽  
Tract Infections

Abstract Introduction: Maturity onset diabetes of the young type 5 (MODY 5) is an autosomal dominant, non-autoimmune form of diabetes mellitus caused by HNF1b gene mutations/deletions. Because of a high prevalence of chronic kidney disease (CKD) and end-stage renal disease (ESRD) in MODY 5 patients, understanding the extra-pancreatic manifestations of MODY 5 can target genetic testing to provide an earlier diagnosis. Case Description: A 26-year-old male was referred for consultation after his primary care physician found an HbA1c of 11.4% and prescribed metformin 500mg/day. He reported weight loss during the previous weeks and a history of Attention Deficit Hyperactivity Disorder (ADHD). He denied urinary tract infections or renal disease. Family history included diabetes (24-year-old brother (also with ADHD) and both parents). His BMI was 17.07 kg/m2 and labs showed a normal lipid profile, including HDL-C 74 mg/dL; urine albumin 0.8 mg/dL; “inappropriately normal” insulin and c-peptide; and negative GAD65, IA-2, and ZNT8 antibodies. Glimepiride 1mg/day at breakfast was added, with referral to a geneticist to rule out MODY. A follow-up HbA1c was 7.1%; Januvia 100 mg/day was added. Glimepiride was later switched to glipizide 7.5 mg at breakfast and 2.5 mg at supper due to overnight hypoglycemia. Genetic testing revealed a male pathogenic 1.39 Mb deletion of 17q12 containing 20 genes, including HNF1b, consistent with MODY 5. Renal ultrasound showed mild hydronephrosis, increased echogenicity of both kidneys, and bilateral non-obstructing nephrolithiasis. Subsequently, his mother (previously diagnosed with diabetes, fatty liver disease, dyslipidemia, and multiple scattered non-obstructing calculi and cysts in both kidneys) was found to have the same genetic defect. His brother’s diabetes is currently well controlled with glargine 0.3 u/kg and aspart 0.05–0.15 u/kg/meal. Unlike the proband, he has obesity (BMI 30 kg/m2), dyslipidemia, and CKD (GFR 57 ml/min); further workup is pending at this time. Discussion: Because patients with MODY 5 are at high risk for CKD3-4/ESRD, MODY 5 should be considered in young adults with diabetes who have negative islet autoantibodies and extra-pancreatic manifestations including elevated liver enzymes, renal cysts and nephrolithiasis; ADHD and learning difficulties; and pancreatic and hepatic morphological abnormalities. HNF1b-targeted genetic testing should be considered in patients with this clinical presentation.

scholarly journals The Effect of HbA1c Variability as a Risk Measure for Microangiopathy in Type 1 Diabetes Mellitus

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1151
Author(s):  
Pedro Romero-Aroca ◽  
Raul Navarro-Gil ◽  
Albert Feliu ◽  
Aida Valls ◽  
Antonio Moreno ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Diabetic Retinopathy ◽  
Type 1 Diabetes Mellitus ◽  
Risk Measure ◽  
Case Series ◽  
Multivariate Statistical ◽  
Case Series Study ◽  
Prospective Case Series

Background: To measure the relationship between variability in HbA1c and microalbuminuria (MA) and diabetic retinopathy (DR) in the long term. Methods: A prospective case-series study, was conducted on 366 Type 1 Diabetes Mellitus patients with normoalbuminuria and without diabetic retinopathy at inclusion. The cohort was followed for a period of 12 years. The Cox survival analysis was used for the multivariate statistical study. The effect of variability in microangiopathy (retinopathy and nephropathy) was evaluated by calculating the standard deviation of HbA1c (SD-HbA1c), the coefficient of variation of HbA1c (CV-HbA1c), average real variability (ARV-HbA1c) and variability irrespective of the mean (VIM-HbA1c) adjusted for the other known variables. Results: A total of 106 patients developed diabetic retinopathy (29%) and 73 microalbuminuria (19.9%). Overt diabetic nephropathy, by our definition, affected only five patients (1.36%). Statistical results show that the current age, mean HbA1c, SD-HbA1c and ARV-HbA1c are significant in the development of diabetic retinopathy. Microalbuminuria was significant for current age, mean HbA1c, CV-HbA1c and ARV-HbA1c. Conclusions: By measuring the variability in HbA1c, we can use SD-HbA1c and ARV-HbA1c as possible targets for judging which patients are at risk of developing DR and MA, and CV-HbA1c as the target for severe DR.

Unusual non-trophic ulcerations in leprosy: A case series of 17 patients

2021 ◽  
pp. 004947552199849
Author(s):  
Prakriti Shukla ◽  
Kiran Preet Malhotra ◽  
Parul Verma ◽  
Swastika Suvirya ◽  
Abir Saraswat ◽  
...  
Keyword(s):  
Erythema Nodosum ◽  
Case Series ◽  
Lepromatous Leprosy ◽  
Sweet Syndrome ◽  
Erythema Nodosum Leprosum ◽  
Leprosy Patients ◽  
Atypical Presentations ◽  
Neuropathic Ulcers

Non-neuropathic ulcers in leprosy patients are infrequently seen, and atypical presentations are prone to misdiagnosis. We evaluated diagnosed cases of leprosy between January 2017 and January 2020 for the presence of cutaneous ulceration, Ridley–Jopling subtype of leprosy, reactions and histologic features of these ulcerations. Treatment was given as WHO recommended multi-bacillary multi-drug therapy. We found 17/386 leprosy patients with non-neuropathic ulcers. We describe three causes – spontaneous cutaneous ulceration in lepromatous leprosy (one nodular and one diffuse), lepra reactions (five patients with type 1; nine with type 2, further categorised into ulcerated Sweet syndrome-like who also had pseudoepitheliomatous hyperplasia, pustulo-necrotic and necrotic erythema nodosum leprosum) and Lucio phenomenon (one patient). Our series draws attention towards the different faces of non-neuropathic ulcers in leprosy, including some atypical and novel presentations.

scholarly journals Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Ya-Bing Wang ◽  
Ou Wang ◽  
Min Nie ◽  
Yan Jiang ◽  
Mei Li ◽  
...  
Keyword(s):  
Case Series ◽  
Pure Red Cell Aplasia ◽  
Hereditary Disease ◽  
Chinese Patients ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Myeloproliferative Disease ◽  
College Hospital ◽  
Autoimmune Polyendocrine Syndrome

Abstract Background Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and extra-endocrine manifestations were collected, and genetic analysis in AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital. Results In total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison’s disease being the most frequently observed manifestations. Up to 84.7% presented with two or three of the above-mentioned manifestations, and nearly 4.9 ± 1.8 components presented in patients aged 21.2 ± 7.9 years old. Several less common phenotypes, such as myeloproliferative disease, pure red cell aplasia, renal tubular acidosis, asplenia, autoimmune hepatitis, and ankylosing spondylitis, were also observed in patients. Altogether, seven different AIRE mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1. Conclusion We have provided a comprehensive profile of Chinese patients with APS1, with less commonly observed features being observed in addition to more regularly seen manifestations. Additionally, different AIRE mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.

Renal ultrasound in the neonatal period

1982 ◽  
Vol 12 (1) ◽  
pp. 15-20 ◽  
Author(s):  
A. N. McInnis ◽  
A. H. Felman ◽  
J. V. Kaude ◽  
R. D. Walker
Keyword(s):  
Neonatal Period ◽  
Renal Ultrasound

scholarly journals Higher Human T-Lymphotropic Virus Type 1 Subtype C Proviral Loads Are Associated With Bronchiectasis in Indigenous Australians: Results of a Case-Control Study

2014 ◽  
Vol 1 (1) ◽  
Author(s):  
Lloyd Einsiedel ◽  
Olivier Cassar ◽  
Emma Goeman ◽  
Tim Spelman ◽  
Virginia Au ◽  
...  
Keyword(s):  
Virus Type ◽  
Geographic Origin ◽  
Peripheral Blood Lymphocytes ◽  
Indigenous Australians ◽  
Pulmonary Injury ◽  
Subtype C ◽  
T Lymphotropic Virus ◽  
Adjusted Risk ◽  
Tract Infections

Abstract Background.  We previously suggested that infection with the human T-lymphotropic virus type 1 (HTLV-1) subtype C is associated with bronchiectasis among Indigenous Australians. Bronchiectasis might therefore result from an HTLV-1-mediated inflammatory process that is typically associated with a high HTLV-1 proviral load (PVL). Human T-lymphotropic virus type 1 PVL have not been reported for Indigenous Australians. Methods.  Thirty-six Indigenous adults admitted with bronchiectasis from June 1, 2008, to December 31, 2009 were prospectively recruited and matched by age, sex, and ethno-geographic origin to 36 controls. Case notes and chest high-resolution computed tomographs were reviewed, and pulmonary injury scores were calculated. A PVL assay for the HTLV-1c subtype that infects Indigenous Australians was developed and applied to this study. Clinical, radiological, and virological parameters were compared between groups and according to HTLV-1 serostatus. Results.  Human T-lymphotropic virus type 1 infection was the main predictor of bronchiectasis in a multivariable model (adjusted risk ratio [aRR], 1.84; 95% confidence interval [CI], 1.19–2.84; P = .006). Moreover, the median HTLV-1c PVL (interquartile range) for cases was >100-fold that of controls (cases, 0.319 [0.007, 0.749]; controls, 0.003 [0.000, 0.051] per 100 peripheral blood lymphocytes; P = .007), and HTLV-1c PVL were closely correlated with radiologically determined pulmonary injury scores (Spearman's rho = 0.7457; P = .0000). Other predictors of bronchiectasis were positive Strongyloides serology (aRR, 1.69; 95% CI, 1.13–2.53) and childhood skin infections (aRR, 1.62; 95% CI, 1.07–2.44). Bronchiectasis was the major predictor of death (aRR, 2.71; 95% CI, 1.36–5.39; P = .004). Conclusions.  These data strongly support an etiological association between HTLV-1 infection and bronchiectasis in a socially disadvantaged population at risk of recurrent lower respiratory tract infections.

PP-36. Purpura fulminans in newborn case series and report of three rare causative agents in the neonatal period

2010 ◽  
Vol 86 ◽  
pp. S32-S33
Author(s):  
Melek Akar ◽  
Gamze Demirel ◽  
Gonca Sandal ◽  
Omer Erdeve ◽  
Nurdan Uras ◽  
...  
Keyword(s):  
Neonatal Period ◽  
Purpura Fulminans ◽  
Case Series ◽  
Causative Agents
Sign in / Sign up

Export Citation Format

Share Document