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Article ; Online: Moyamoya syndrome in Schimke immuno-osseous dysplasia

Vujić Ana / Obradović Slobodan / Igrutinović Zoran / Protrka Zoran / Janković Marijana / Radovanović Marija / Stajić Nataša / Medović Raša / Janković Sveta

Vojnosanitetski Pregled, Vol 80, Iss 3, Pp 270-

2023 Volume 274

Abstract: Introduction. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMAR-CAL1 gene. Vascular central nervous system complications in the form of Moyamoya syndrome (MMS) have ... ...

Abstract	Introduction. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMAR-CAL1 gene. Vascular central nervous system complications in the form of Moyamoya syndrome (MMS) have been reported as a comorbidity in nearly half of the patients clinically presenting with severe migraine-like headaches, transient ischemic attacks (TIA), and ischemic or hemorrhagic infarctions. We present an illustrative case of an infantile form of SIOD with MMS, with a review of the latest diagnostic possibilities, as well as current diagnostic and therapeutic dilemmas in managing SIOD. Case report. We present a female patient with the infantile form of SIOD. The proband was born small for gestational age in the 34th gestation week with characteristic dysmorphic features. Genetic testing found a biallelic, nonsense mutation c.2542G>T in the SMARCAL1 gene. The patient presented early with TIA, seizures, and recurrent ischemic strokes. Magnetic resonance imaging (MRI) confirmed the presence of progressive brain atrophy with bilateral occlusion/stenosis of middle cerebral artery and anterior cerebral artery and a smoke-like collateral vessel appearance consistent with the MMS. At the age of 5 years and 9 months, the patient developed a high fever and cough with unknown cause, with a low erythrocyte and white blood cell count during four weeks, with a poor therapeutic response to antibiotics, transfusion of red blood cells, and granulocyte growth factor. She later died. Conclusion. Patients with SIOD may present progressive cerebral vascular changes and clinical neurologic deterioration early in the course of the disease. In such patients, early diagnosis and preventive revascularization surgery are of paramount importance. In diagnosing MMS, MRI angiography can be an appropriate substitute for standard invasive cerebral angiography.
Keywords	cerebrovascular disorders ; diagnosis ; magnetic resonance imaging ; moyamoya disease ; mutation ; neurologic manifestation ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2023-01-01T00:00:00Z
Publisher	Military Health Department, Ministry of Defance, Serbia
Document type	Article ; Online
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Article ; Online: Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

Riedhammer, Korbinian M / Simmendinger, Hannes / Tasic, Velibor / Putnik, Jovana / Abazi-Emini, Nora / Stajic, Natasa / Berutti, Riccardo / Weidenbusch, Marc / Patzer, Ludwig / Lungu, Adrian / Milosevski-Lomic, Gordana / Günthner, Roman / Braunisch, Matthias C / Ćomić, Jasmina / Hoefele, Julia

Clinical genetics

2024 Volume 105, Issue 4, Page(s) 406–414

Abstract: Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end-stage kidney disease (ESKD). Monoallelic disease-causing variants in COL4A3/COL4A4 have been associated with autosomal dominant AS (ADAS) and ... ...

Abstract	Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end-stage kidney disease (ESKD). Monoallelic disease-causing variants in COL4A3/COL4A4 have been associated with autosomal dominant AS (ADAS) and biallelic variants with autosomal recessive AS (ARAS). The aim of this study was to analyze clinical and genetic data regarding a possible genotype-phenotype correlation in individuals with disease-causing variants in COL4A3/COL4A4. Eighty-nine individuals carrying at least one COL4A3/COL4A4 variant classified as (likely) pathogenic according to the American College of Medical Genetics guidelines and current amendments were recruited. Clinical data concerning the prevalence and age of first reported manifestation of MH, proteinuria, ESKD, and extrarenal manifestations were collected. Individuals with monoallelic non-truncating variants reported a significantly higher prevalence and earlier diagnosis of MH and proteinuria than individuals with monoallelic truncating variants. Individuals with biallelic variants were more severely affected than those with monoallelic variants. Those with biallelic truncating variants were more severely affected than those with compound heterozygous non-truncating/truncating variants or individuals with biallelic non-truncating variants. In this study an association of heterozygous non-truncating COL4A3/COL4A4 variants with a more severe phenotype in comparison to truncating variants could be shown indicating a potential dominant-negative effect as an explanation for this observation. The results for individuals with ARAS support the, still scarce, data in the literature.
MeSH term(s)	Humans ; Mutation ; Collagen Type IV/genetics ; Autoantigens/genetics ; Nephritis, Hereditary/diagnosis ; Hematuria/genetics ; Proteinuria/genetics
Chemical Substances	Collagen Type IV ; Autoantigens ; COL4A4 protein, human
Language	English
Publishing date	2024-01-12
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14471
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Article ; Online: Evaluation of carotid intima media thickness in children with idiopathic nephrotic syndrome.

Paripović, Aleksandra / Stajić, Nataša / Putnik, Jovana / Gazikalović, Ana / Bogdanović, Radovan / Vladislav, Vukomanović

Nephrologie & therapeutique

2020 Volume 16, Issue 7, Page(s) 420–423

Abstract: Aim: Aim of the study was to determine if carotid intima media thickness in children with idiopathic nephrotic syndrome is greater than in healthy subjects, and to assess whether carotid intima media thickness in children with nephrotic syndrome is ... ...

Abstract	Aim: Aim of the study was to determine if carotid intima media thickness in children with idiopathic nephrotic syndrome is greater than in healthy subjects, and to assess whether carotid intima media thickness in children with nephrotic syndrome is associated with clinical (including disease duration, cumulative dose of steroids, number of relapses) and biochemical parameters. Methods: A cross-sectional study included 40 patients with nephrotic syndrome (mean age 11.7±4.7 years). Steroid dependent nephrotic syndrome was established in 32 patients (80%), while 8 (20%) had steroid resistant nephrotic syndrome. Control group consisted of 20 age and gender matched healthy children. Blood pressure based on 24-h ambulatory blood pressure monitoring (ABPM), carotid intima media thickness, fasting glucose, insulin, HbA1c, lipid concentrations were measured in all children. Results: A significant difference was detected in carotid intima media thickness values (P=0.036). Children with nephrotic syndrome had significantly greater carotid intima media thickness compared with healthy children (0.42±0.06 and 0.38±0.03mm). Carotid intima-media thickness was positively associated with duration of nephrotic syndrome (r=0.45; P=0.004), body mass index (r=0.48; P=0.002), daytime systolic blood pressure (r=0.46; P=0.003) and night-time systolic blood pressure (r=0.52; P=0.001). Multiple linear regression showed that duration of nephrotic syndrome was the only independent predictor of carotid intima media thickness in children with nephrotic syndrome (R Conclusion: The findings of the present study suggest subclinical vascular damage in patients with nephrotic syndrome. Duration of nephrotic syndrome was the only independent predictor of carotid intima media thickness.
MeSH term(s)	Blood Pressure ; Body Mass Index ; Carotid Intima-Media Thickness ; Case-Control Studies ; Child ; Cross-Sectional Studies ; Female ; Humans ; Male ; Nephrotic Syndrome/complications ; Systole
Language	English
Publishing date	2020-11-06
Publishing country	France
Document type	Journal Article
ZDB-ID	2229575-6
ISSN	1872-9177 ; 1769-7255
ISSN (online)	1872-9177
ISSN	1769-7255
DOI	10.1016/j.nephro.2020.09.004
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Article ; Online: Innate Immune Response in Kidney Ischemia/Reperfusion Injury: Potential Target for Therapy.

Kezić, Aleksandra / Stajic, Natasa / Thaiss, Friedrich

Journal of immunology research

2017 Volume 2017, Page(s) 6305439

Abstract: Acute kidney injury caused by ischemia and subsequent reperfusion is associated with a high rate of mortality and morbidity. Ischemia/reperfusion injury in kidney transplantation causes delayed graft function and is associated with more frequent episodes ...

Abstract	Acute kidney injury caused by ischemia and subsequent reperfusion is associated with a high rate of mortality and morbidity. Ischemia/reperfusion injury in kidney transplantation causes delayed graft function and is associated with more frequent episodes of acute rejection and progression to chronic allograft nephropathy. Alloantigen-independent inflammation is an important process, participating in pathogenesis of injurious response, caused by ischemia and reperfusion. This innate immune response is characterized by the activity of classical cells belonging to the immune system, such as neutrophils, macrophages, dendritic cells, lymphocytes, and also tubular epithelial cells and endothelial cells. These immune cells not only participate in inflammation after ischemia exerting detrimental influence but also play a protective role in the healing response from ischemia/reperfusion injury. Delineating of complex mechanisms of their actions could be fruitful in future prevention and treatment of ischemia/reperfusion injury. Among numerous so far conducted experiments, observed immunomodulatory role of adenosine and adenosine receptor agonists in complex interactions of dendritic cells, natural killer T cells, and T regulatory cells is emphasized as promising in the treatment of kidney ischemia/reperfusion injury. Potential pharmacological approaches which decrease NF-
Language	English
Publishing date	2017
Publishing country	Egypt
Document type	Journal Article ; Review
ZDB-ID	2817541-4
ISSN	2314-7156 ; 2314-8861
ISSN (online)	2314-7156
ISSN	2314-8861
DOI	10.1155/2017/6305439
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Article ; Online: Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.

Riedhammer, Korbinian M / Ćomić, Jasmina / Tasic, Velibor / Putnik, Jovana / Abazi-Emini, Nora / Paripovic, Aleksandra / Stajic, Natasa / Meitinger, Thomas / Nushi-Stavileci, Valbona / Berutti, Riccardo / Braunisch, Matthias C / Hoefele, Julia

European journal of human genetics : EJHG

2023 Volume 31, Issue 6, Page(s) 674–680

Abstract: Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic cause ... ...

Abstract	Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic cause can be identified in ~12% of affected individuals. This study investigated a single-center CAKUT cohort analyzed by exome sequencing (ES). Emphasis was placed on the question whether diagnostic yield differs between certain CAKUT phenotypes (e.g., bilateral kidney affection, unilateral kidney affection or only urinary tract affection). 86 unrelated individuals with CAKUT were categorized according to their phenotype and analyzed by ES to identify a monogenic cause. Prioritized variants were rated according to the recommendations of the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science. Diagnostic yields of different phenotypic categories were compared. Clinical data were collected using a standardized questionnaire. In the study cohort, 7/86 individuals had a (likely) pathogenic variant in the genes PAX2, PBX1, EYA1, or SALL1. Additionally, in one individual, a 17q12 deletion syndrome (including HNF1B) was detected. 64 individuals had a kidney affection, which was bilateral in 36. All solved cases (8/86, 9%) had bilateral kidney affection (diagnostic yield in subcohort: 8/36, 22%). Although the diagnostic yield in CAKUT cohorts is low, our single-center experience argues, that, in individuals with bilateral kidney affection, monogenic burden is higher than in those with unilateral kidney or only urinary tract affection.
MeSH term(s)	Humans ; Exome Sequencing ; Kidney/abnormalities ; Urinary Tract/abnormalities ; Vesico-Ureteral Reflux/genetics ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics ; Urogenital Abnormalities/pathology
Language	English
Publishing date	2023-03-16
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01331-x
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Article ; Online: Chronic kidney disease during a 12-year period at tertiary health institution

Paripović Aleksandra / Stajić Nataša / Putnik Jovana / Bogdanović Radovan

Srpski Arhiv za Celokupno Lekarstvo, Vol 140, Iss 5-6, Pp 313-

2012 Volume 320

Abstract: Introduction. Chronic kidney disease (CKD) is a significant cause of morbidity and mortality in paediatric population. Objective. The aim of the study was analysis of aetiology, staging and associated complications of CKD at the time of diagnosis. ... ...

Abstract	Introduction. Chronic kidney disease (CKD) is a significant cause of morbidity and mortality in paediatric population. Objective. The aim of the study was analysis of aetiology, staging and associated complications of CKD at the time of diagnosis. Methods. Data of 97 patients (56 boys) of average age 7.8±5.8 years, referred for the first time to the Institute for Mother and Child Healthcare „Dr Vukan Čupić”, Belgrade in the period 1998- 2009, due to CKD, stage 2-5, were analysed. In each patient illness history was obtained, and physical examination, laboratory, X-ray and other investigations were performed according to the indications. CKD was classified according to the glomerular filtration rate into four grades: 2 - mild (60-90 ml/min/1.73 m2); 3 - moderate (30-60 ml/min/1.73 m2); 4 - advanced (15-30 ml/ min/1.73 m2); and 5 - terminal (<15 ml/min/1.73 m2). Results. The most frequent causes of CKD were congenital anomalies of the kidney and urinary tract (43.3%), followed by glomerular diseases (17.5%), hereditary kidney diseases (16.5%), metabolic diseases (7.2%) and other causes (15.5%). Mild CKD was found in 29.8%, moderate in 28.9%, advanced in 22.7%, and terminal in 18.6% children. Among patients with CKD stage 4 and 5, 75% of patients presented with acute renal failure, while 25% had earlier detected CKD (stage 1), but were not under regular follow-up. Associated complications included metabolic acidosis (63%), anaemia (60%), hypertension (42.3%), short stature (25.8%), renal osteodystrophy (13.4%) and cardiovascular diseases (7.2%). Conclusion. Congenital anomalies of the kidney and urinary tract are the leading cause of CKD in paediatric population. A significant proportion (41.3%) of patients had advanced and terminal CKD. In most patients CKD was diagnosed late and with associated complications.
Keywords	chronic kidney disease ; aetiology ; associated complications ; children ; Medicine ; R
Subject code	610 ; 616
Language	English
Publishing date	2012-01-01T00:00:00Z
Publisher	Serbian Medical Society
Document type	Article ; Online
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Article ; Online: Transient pseudohypoaldosteronism

Stajić Nataša / Putnik Jovana / Paripović Aleksandra / Bogdanović Radovan

Srpski Arhiv za Celokupno Lekarstvo, Vol 139, Iss 1-2, Pp 37-

2011 Volume 43

Abstract: Introduction. Infants with urinary tract malformations (UTM) presenting with urinary tract infection (UTI) are prone to develop transient type 1 pseudohypoaldosteronism (THPA1). Objective. Report on patient series with characteristics of THPA1, UTM and/ ... ...

Abstract	Introduction. Infants with urinary tract malformations (UTM) presenting with urinary tract infection (UTI) are prone to develop transient type 1 pseudohypoaldosteronism (THPA1). Objective. Report on patient series with characteristics of THPA1, UTM and/or UTI and suggestions for the diagnosis and therapy. Methods. Patients underwent blood and urine electrolyte and acid-base analysis, serum aldosterosterone levels and plasma rennin activity measuring; urinalysis, urinoculture and renal ultrasound were done and medical and/or surgical therapy was instituted. Results. Hyponatraemia (120.9±5.8 mmol/L), hyperkalaemia (6.9±0.9 mmol/L), metabolic acidosis (plasma bicarbonate, 11±1.4 mmol/L), and a rise in serum creatinine levels (145±101 μmol/L) were associated with inappropriately high urinary sodium (51.3±17.5 mmol/L) and low potassium (14.1±5.9 mmol/L) excretion. Elevated plasma aldosterone concentrations (170.4±100.5 ng/dL) and the very high levels of the plasma aldosterone to potassium ratio (25.2±15.6) together with diminished urinary K/Na values (0.31±0.19) indicated tubular resistance to aldosterone. After institution of appropriate medical and/or surgical therapy, serum electrolytes, creatinine, and acid-base balance were normalized. Imaging studies showed ureteropyelic or ureterovesical junction obstruction in 3 and 2 patients, respectively, posterior urethral valves in 3, and normal UT in 1 patient. According to our knowledge, this is the first report on THPA1 in the Serbian literature. Conclusion. Male infants with hyponatraemia, hyperkalaemia and metabolic acidosis have to have their urine examined and the renal ultrasound has to be done in order to avoid both, the underdiagnosis of THPA1 and the inappropriate medication.
Keywords	transient pseudohypoaldosteronism ; urinary tract infection ; urinary tract malformation ; Medicine ; R
Subject code	610
Language	English
Publishing date	2011-01-01T00:00:00Z
Publisher	Serbian Medical Society
Document type	Article ; Online
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Article: [Chronic kidney disease during a 12-year period at tertiary health institution].

Paripović, Aleksandra / Stajić, Nataša / Putnik, Jovana / Bogdanović, Radovan

Srpski arhiv za celokupno lekarstvo

2012 Volume 140, Issue 5-6, Page(s) 313–320

Abstract: Introduction: Chronic kidney disease (CKD) is a significant cause of morbidity and mortality in paediatric population.: Objective: The aim of the study was analysis of aetiology, staging and associated complications of CKD at the time of diagnosis.!## ...

Abstract	Introduction: Chronic kidney disease (CKD) is a significant cause of morbidity and mortality in paediatric population. Objective: The aim of the study was analysis of aetiology, staging and associated complications of CKD at the time of diagnosis. Methods: Data of 97 patients (56 boys) of average age 7.8 +/- 5.8 years, referred for the first time to the Institute for Mother and Child Healthcare "Dr Vukan Cupić", Belgrade in the period 1998-2009, due to CKD, stage 2-5, were analysed. In each patient illness history was obtained, and physical examination, laboratory, X-ray and other investigations were performed according to the indications. CKD was classified according to the glomerular filtration rate into four grades: 2--mild (60-90 ml/min/1.73 m2); 3--moderate (30-60 ml/min/1.73 m2); 4--advanced (15-30 ml/ min/1.73 m2); and 5--terminal (< 15 ml/min/1.73 m2). Results: The most frequent causes of CKD were congenital anomalies of the kidney and urinary tract (43.3%), followed by glomerular diseases (17.5%), hereditary kidney diseases (16.5%), metabolic diseases (7.2%) and other causes (15.5%). Mild CKD was found in 29.8%, moderate in 28.9%, advanced in 22.7%, and terminal in 18.6% children. Among patients with CKD stage 4 and 5, 75% of patients presented with acute renal failure, while 25% had earlier detected CKD (stage 1), but were not under regular follow-up. Associated complications included metabolic acidosis (63%), anaemia (60%), hypertension (42.3%), short stature (25.8%), renal osteodystrophy (13.4%) and cardiovascular diseases (7.2%). Conclusion: Congenital anomalies of the kidney and urinary tract are the leading cause of CKD in paediatric population. A significant proportion (41.3%) of patients had advanced and terminal CKD. In most patients CKD was diagnosed late and with associated complications.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Female ; Glomerular Filtration Barrier ; Humans ; Male ; Renal Insufficiency, Chronic/etiology ; Renal Insufficiency, Chronic/physiopathology
Language	Serbian
Publishing date	2012-07-23
Publishing country	Serbia
Document type	English Abstract ; Journal Article
ZDB-ID	128567-1
ISSN	0370-8179 ; 0354-2793 ; 0049-0210
ISSN	0370-8179 ; 0354-2793 ; 0049-0210
DOI	10.2298/sarh1206313p
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Article ; Online: Congenital thrombocytopenia with nephritis

Kuzmanović Miloš / Kunishima Shinji / Putnik Jovana / Stajić Nataša / Paripović Aleksandra / Bogdanović Radovan

Vojnosanitetski Pregled, Vol 71, Iss 4, Pp 395-

The first case of MYH9 related disorder in Serbia

2014 Volume 398

Abstract: Introduction. The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels ... ...

Abstract	Introduction. The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels of deafness, disturbances of vision and renal function impairment. A common genetic background of these disorders are mutations in MYH9 gene, coding for the nonmuscle myosin heavy chain IIA. Differential diagnosis is important for the adequate treatment strategy. The aim of this case report was to present a patient with MYH9 disorder in Serbia. Case report. A 16-year-old boy was referred to our hospital with the diagnosis of resistant immune thrombocytopenia for splenectomy. Thrombocytopenia was incidentally discovered at the age of five. The treatment with corticosteroids on several occasions was unsuccessful. Although the platelet count was below 10 × 109/L, there were no bleeding symptoms. Besides thrombocytopenia with giant platelets, on admission the patient also suffered sensorineuronal hearing loss and proteinuria. The diagnosis was confirmed with immunofluorescence and genetic analyses. Conclusion. Early recognition of MYH9-related diseases is essential to avoid unnecessary and potentially harmful treatments for misdiagnosed immune thrombocytopenia, and also for timely and proper therapy in attempt to delay end-stage renal failure and improve quality of life. [Projekat Ministartsva nauke Republike Srbije, br. 175056 i br. 15079]
Keywords	thrombocytopenia ; nephritis hereditary ; myosin heavy chains ; diagnosis ; Serbia ; Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2014-01-01T00:00:00Z
Publisher	Military Health Department, Ministry of Defance, Serbia
Document type	Article ; Online
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Article: [Transient pseudohypoaldosteronism].

Stajić, Natasa / Putnik, Jovana / Paripović, Aleksandra / Bogdanović, Radovan

Srpski arhiv za celokupno lekarstvo

2011 Volume 139, Issue 1-2, Page(s) 37–43

Abstract: Introduction: Infants with urinary tract malformations (UTM) presenting with urinary tract infection (UTI) are prone to develop transient type 1 pseudohypoaldosteronism (THPA1).: Objective: Report on patient series with characteristics of THPA1, UTM ... ...

Abstract	Introduction: Infants with urinary tract malformations (UTM) presenting with urinary tract infection (UTI) are prone to develop transient type 1 pseudohypoaldosteronism (THPA1). Objective: Report on patient series with characteristics of THPA1, UTM and/or UTI and suggestions for the diagnosis and therapy. Methods: Patients underwent blood and urine electrolyte and acid-base analysis, serum aldosterosterone levels and plasma rennin activity measuring; urinalysis, urinoculture and renal ultrasound were done and medical and/or surgical therapy was instituted. Results: Hyponatraemia (120.9 +/- 5.8 mmol/L), hyperkalaemia (6.9 +/- 0.9 mmol/L), metabolic acidosis (plasma bicarbonate, 11 +/- 1.4 mmol/L), and a rise in serum creatinine levels (145 +/- 101 micromol/L) were associated with inappropriately high urinary sodium (51.3 +/- 17.5 mmol/L) and low potassium (14.1 +/- 5.9 mmol/L) excretion. Elevated plasma aldosterone concentrations (170.4 +/- 100.5 ng/dL) and the very high levels of the plasma aldosterone to potassium ratio (25.2 +/- 15.6) together with diminished urinary K/Na values (0.31 +/- 0.19) indicated tubular resistance to aldosterone. After institution of appropriate medical and/or surgical therapy, serum electrolytes, creatinine, and acid-base balance were normalized. Imaging studies showed ureteropyelic or ureterovesical junction obstruction in 3 and 2 patients, respectively, posterior urethral valves in 3, and normal UT in 1 patient. According to our knowledge, this is the first report on THPA1 in the Serbian literature. Conclusion: Male infants with hyponatraemia, hyperkalaemia and metabolic acidosis have to have their urine examined and the renal ultrasound has to be done in order to avoid both, the underdiagnosis of THPA1 and the inappropriate medication.
MeSH term(s)	Humans ; Infant ; Male ; Pseudohypoaldosteronism/diagnosis ; Pseudohypoaldosteronism/etiology ; Pseudohypoaldosteronism/therapy ; Urinary Tract/abnormalities ; Urinary Tract Infections/complications
Language	Serbian
Publishing date	2011-05-11
Publishing country	Serbia
Document type	English Abstract ; Journal Article
ZDB-ID	128567-1
ISSN	0370-8179 ; 0354-2793 ; 0049-0210
ISSN	0370-8179 ; 0354-2793 ; 0049-0210
DOI	10.2298/sarh1102037s
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