Presentation
Here, we present the case of a 6-week-old baby girl who presented with mild hyponatraemia and dehydration with a background of severe failure to thrive. [ncbi.nlm.nih.gov]
Method: We present five cases, presenting in infancy with sepsis and significant hyponatraemia, where underlying obstructive uropathy was subsequently discovered. [abstracts.eurospe.org]
We report four infants who presented with profound hyponatremia accompanied by urinary tract infection, ultimately leading to the diagnosis of transient pseudohypoaldosteronism. [ijpeonline.biomedcentral.com]
Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient. [books.google.com]
Entire Body System
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Weight Gain
Despite high calorie feeds the infant weight gain and hyponatraemia did not improve until salt supplements were commenced. Subsequently, the karyotype was reported as 46,XX,inv (4)(q31.2q35). [ncbi.nlm.nih.gov]
A boy who had a minor lung puncture at birth died at the age of four weeks after slow weight gain, failure to thrive, vomiting and poor urinary flow. [tidsskriftet.no]
Symptoms can include poor weight gain, failure to thrive, vomiting or dehydration and onset is typically in the newborn period or infancy. [hopkinsmedicine.org]
Medical and Biotech [MESH] Definitions Failure To Thrive A condition in which an infant or child's weight gain and growth are far below usual levels for age. [bioportfolio.com]
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Fishing
Further FISH analysis showed findings consistent with disruption of the NR3C2 gene by the proximal breakpoint (4q31.23) of the inversion. There was no evidence of deletion or duplication at or near the breakpoint. [ncbi.nlm.nih.gov]
FISH can identify microdeletions, with a detection rate of 5-10% [38,75]. [docksci.com]
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Goiter
MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND [books.google.com]
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Thyroid Nodule
MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID [books.google.com]
Fetus
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Hydrops Fetalis
Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.com]
Workup
Further workup showed serum aldosterone level of 2174 mg/dL (10–160 mg/dL), PRA (pre renal activity) of 103.9 ng/mL/hr (0.5–1.19 mg/mL), serum renin level of 193998 ng/dL/hr (0.29–3.7 ng/dL/hr), carbon dioxide of 19 mmol/L (normal levels in brackets). [ijcasereportsandimages.com]
Urine
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Pyuria
Urinary tract infection was confirmed by pyuria. Organisms cultured included coliforms. One case was complicated by infective urinary ascites which grew Citrobacter koseri. [abstracts.eurospe.org]
A urinalysis revealed pyuria, and she was treated with amoxicillin; the urine eventually grew Klebsiella pneumoniae. There was no history of fever. [ijpeonline.biomedcentral.com]
Analysis of urine collected by suprapubic puncture showed microscopic hematuria, pyuria, negative nitrites, proteinuria (150 mg/dL), pH 6, specific gravity 1010, sodium 21 mEq/L, and potassium 27.3 mEq/L, with an osmolarity of 228 mOsmol/kg. [elsevier.es]
Serum
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Abnormal Thyroid Function Test
THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.com]
Microbiology
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Citrobacter Koseri
One case was complicated by infective urinary ascites which grew Citrobacter koseri. Significant obstructive uropathy was demonstrated by ultrasound scan (USS), and further characterised by micturating cysto-urethrogram after the acute period. [abstracts.eurospe.org]
Treatment
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
Prognosis
[…] project is to present an interesting case of severe hyponatremia in an infant with pseudohypoaldosteronism and present information about the disease Pseudohypoaldosteronism including: definition, characteristics, etiology, presentation, management, and prognosis [digitalcommons.hsc.unt.edu]
Treatment: High doses of bicarbonate are required but the prognosis is good. Correcting acidosis and low potassium levels allows normal growth and prevents bone disease; however, vitamin D supplements may also be required. [patient.info]
Cameron JS, Turner DR, Heaton J, et al: Idiopathic mesan- giocapillary glomerulonephritis: Comparison of types I and II in children and adults and long-term prognosis. Am 1 Med 1983; 74:175-192. [docslide.com.br]
On the other hand, the prognosis of the patients correctly diagnosed and treated to prevent electrolyte disorders is generally good [2,4]. The clinical presentation of the isolated hypoaldosteronism varies with age. [file.scirp.org]
Etiology
Douglass Purpose (a): The purpose of this project is to present an interesting case of severe hyponatremia in an infant with pseudohypoaldosteronism and present information about the disease Pseudohypoaldosteronism including: definition, characteristics, etiology [digitalcommons.hsc.unt.edu]
(See "Etiology and treatment of hypoaldosteronism (type 4 RTA)", section on Congenital adrenal hyperplasia and isolated hypoaldosteronism, which reviews the biosynthetic defects in this disorder). [enotes.tripod.com]
PHA1 is heterogeneous in etiology. [e-sciencecentral.org]
The etiological study was completed by abdominal ultrasonography, which showed bilateral ureterohydronephrosis, winding ureters, and hyperechogenic contents related to turbid urine. [elsevier.es]
Etiology and recurrence risk in Rubinstein- Taybi syndrome. Am J Med Genet. 1990;6:56–64. 44. Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro- dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. [docksci.com]
Epidemiology
Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology [prolekare.cz]
Rowe PC, Orrbine E, Wells GA, et al: Epidemiology of he- molytic-uremic syndrome in Canadian children from 1986 to 1988. ] Pediatr 1991; 119:218-224. 55. [docslide.com.br]
Pathophysiology
Figure 2 Pathophysiology in obstructive uropathy. The figure is based on Paal H.H. [tidsskriftet.no]
While a number of major malformations * Correspondence: [email protected] 1 Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico [docksci.com]
Children with systemic, but not renal, pseudohypoaldosteronism have frequent lower respiratory tract illnesses of unknown cause. 5,6 It is difficult to predict the phenotype and pathophysiology of lung disease in patients in whom airway epithelial sodium [nejm.org]
The emphasis is on management; details of pathophysiology and di- agnostic investigations are only highlighted if they directly relate to therapy. [docslide.com.br]
Prevention
How to use an article about therapy or prevention. B. What were the results and will they help me in caring for my patients? Evidence-Based Medicine Working Group. JAMA 1994;271:59-63. 79. [books.google.com]
[…] the possibility that some patients with secondary PHA1 attributed to UTI and/or UTM may instead have primary autosomal dominant PHA1, for which genetic testing should be considered to identify the cause, determine future recurrence risk, and possibly prevent [pubfacts.com]
Chronic: oral bicarbonate; long-term potassium supplements are usually not required, as alkali therapy prevents excessive urinary potassium loss. [patient.info]
[…] together with implementation of a low pressure urinary system (urinary catheterization or vesicostomy), which reduces aggression of VUR on the upper urinary tract. 10 Surgery was subsequently performed, consisting of bladder augmentation cystoplasty, which prevent [elsevier.es]