Read by QxMD icon Read

Renal tubular acidosis in children

Manel Jellouli, Wiem Karoui, Kamel Abidi, Yousra Hammi, Ouns Naija, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Background Nephrocalcinosis is rare in children. Its etiologies are multiple. The aim of this study was to analyze the etiology of nephrocalcinosis in Tunisian children. Methods This retrospective study was conducted in the department of pediatrics in Charles Nicolle Hospital during a period of 10 years (2001-2010). Results There were 40 children. The mean age was 3.5 years. The most common signs and symptoms at presentation were growth retardation (42.5%) and hematuria (53.8%). At presentation, renal failure was detected in 70% of patients...
April 2016: La Tunisie Médicale
Mohd Ashraf, Virender Kumar, Rifat Ara Bano, Khursheed Ahmed Wani, Javed Ahmed, Kaisar Ahmed
INTRODUCTION: Definite paucity of data pertaining to spectrum of renal and urinary tract diseases in our state and in various parts of India forms the basis of this study. Available data has emphasized more on specific clinical syndromes and chronic renal diseases rather than over all spectrums of renal and urinary tract diseases, that too in adult population. AIM: The present study a retrospective analysis, forms one of the basic data of paediatric nephrology and urology related disorders in our state...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
Imad Mohammad Dweikat, Issa Shaher Alawneh, Sami Fares Bahar, Mutaz Idrees Sultan
BACKGROUND: Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191-194, 1998). The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal renal tubular dysfunction, rickets and severe short stature...
2016: BMC Research Notes
Laura I Escobar, Christopher Simian, Cyrielle Treard, Donia Hayek, Carolina Salvador, Norma Guerra, Mario Matos, Mara Medeiros, Sandra Enciso, María Dolores Camargo, Rosa Vargas-Poussou
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia. METHODS: Nine unrelated families were studied: seven children, a teenager, and an adult with dRTA...
May 2016: Molecular Genetics & Genomic Medicine
Shreya Sharma, Ramachandran Rameshkumar, Subramanian Mahadevan
Cleistanthus collinus, also known as Oduvanthalai in Tamil, is the most commonly encountered plant poison in southern India. The leaves are used for poisoning humans (suicide or homicide) and animals (cattle and fish) and as an abortifacient, especially in rural south India. Although this poisoning is commonly reported in adults, data regarding the use of N-acetylcysteine in pediatric poisoning is lacking. We report two previously healthy male siblings of pediatric age group who ingested the liquid extracted from crushed leaves of this plant given to them by their mother as a means of deliberate harm...
May 29, 2016: Journal of Tropical Pediatrics
Mario Meola, Sara Samoni, Ilaria Petrucci
Cysts are frequently found in chronic kidney disease (CKD) and they have a different prognostic significance depending on the clinical context. Simple solitary parenchymal cysts and peripelvic cysts are very common and they have no clinical significance. At US, simple cyst appears as a round anechoic pouch with regular and thin profiles. On the other hand, hereditary polycystic disease is a frequent cause of CKD in children and adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the best known cystic hereditary diseases...
2016: Contributions to Nephrology
Lidvana Spahiu, Haki Jashari, Vjosa Mulliqi-Kotori, Blerta Elezi-Rugova, Besart Merovci
INTRODUCTION: Hypothyroidism has been reported to affect renal function and structure. However, the association of hypothyroidism with distal renal tubular acidosis (dRTA) is rarely reported in children. CASE PRESENTATION: We present a 6-year-boy with Down syndrome admitted in our department due to vomiting, weakness, polyuria, polydipsia, irritability and weight loss in the last few weeks. Investigations revealed features of hypokalemia, metabolic acidosis and alkaline urine consistent with dTRA...
April 2016: Acta Informatica Medica: AIM
Pauline Scherdel, Leo Dunkel, Paula van Dommelen, Olivier Goulet, Jean-François Salaün, Raja Brauner, Barbara Heude, Martin Chalumeau
Growth monitoring of apparently healthy children aims at early detection of serious underlying disorders. However, existing growth-monitoring practices are mainly based on suboptimal methods, which can result in delayed diagnosis of severe diseases and inappropriate referrals. We did a systematic review to address two key and interconnected questions underlying growth monitoring: which conditions should be targeted, and how should abnormal growth be defined? We systematically searched for studies reporting algorithms for growth monitoring in children and studies comparing the performance of new WHO growth charts with that of other growth charts...
May 2016: Lancet Diabetes & Endocrinology
Anna Bertini, Gregorio P Milani, Giacomo D Simonetti, Emilio F Fossali, Pietro B Faré, Mario G Bianchetti, Sebastiano A G Lava
Guidelines on the diagnosis and management of urinary tract infections in childhood do not address the issue of abnormalities in Na(+), K(+), Cl(-) and acid-base balance. We have conducted a narrative review of the literature with the aim to describe the underlying mechanisms of these abnormalities and to suggest therapeutic maneuvers. Abnormalities in Na(+), K(+), Cl(-) and acid-base balance are common in newborns and infants and uncommon in children of more than 3 years of age. Such abnormalities may result from factitious laboratory results, from signs and symptoms (such as excessive sweating, poor fluid intake, vomiting and passage of loose stools) of the infection itself, from a renal dysfunction, from improper parenteral fluid management or from the prescribed antimicrobials...
September 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is a rare autosomal recessive disorder and the most common cause of inherited renal Fanconi syndrome in young children. Renal biopsy is usually not necessary to establish the diagnosis, but when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. We describe here renal biopsy findings in a patient with cystinosis. A 20-month-old male presented with failure to thrive, polyuria, polydipsia and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency and nephrogenic diabetes insipidus...
November 18, 2015: Pediatric and Developmental Pathology
Velibor Tasic, Zoran Gucev
Diagnosis and management of pediatric nephrolithiasis/nephrocalcinosis is a very complex and challenging task for every pediatrician. It is based on correct. disease history taking, which may guide to the mode of inheritance (dominant, recessive, x-linked). Ethnicity and consanguinity should also be investigated since they predispose to high prevalence of certain disorders. One should always begin with cheap and available screening tests. Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hypocitraturia, cystinuria, primary hyperoxaluria and renal hypouricemia...
September 2015: Pediatric Endocrinology Reviews: PER
Paula Cristina Barros Pereira, Flávia Medeiros Melo, Luiz Armando Cunha De Marco, Eduardo Araújo Oliveira, Débora Marques Miranda, Ana Cristina Simões e Silva
OBJECTIVE: Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole-exome sequencing. METHODS: Two unrelated families were selected; a total of four children with dRTA and their parents, in order to perform whole-exome sequencing. Hearing was preserved in both children from the first family, but not in the second, wherein a twin pair had severe deafness...
November 2015: Jornal de Pediatria
Norma E Guerra-Hernández, Karen V Ordaz-López, Laura Escobar-Pérez, Circe Gómez-Tenorio, Víctor M García-Nieto
BACKGROUND: Primary distal renal tubular acidosis is a clinical disorder characterized by hyperchloremic metabolic acidosis, hypercalciuria, hypocitraturia, urinary acidification impairment, hypokalemia, metabolic bone disease, and nephrocalcinosis. Urinary acidification ability may be evaluated by an acidification test or maximum urinary pCO2 assessment with alkaline urine. The maximum urinary pCO2 test using acetazolamide and sodium bicarbonate is an easy test to confirm the lack of urine acidification in distal renal tubular acidosis in children...
May 2015: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
Shatha Hussain Ali, Fadhil Shanan Hussien, Haider Abd Al-Amer
Renal disease in hospitalized children can be difficult to diagnose early as it may exhibit few symptoms, unlike in adults. This study reports the epidemiological data, percentages and types of renal disorders in children seen at the pediatric nephrology center of the AlKadhymia Teaching Hospital, Baghdad, Iraq. A retrospective review of the charts of all patients, aged between one month and 14 years, who were admitted and followed-up for a period of three years from January 2009 till January 2012 were studied...
May 2015: Saudi Journal of Kidney Diseases and Transplantation
Gwo-Tsann Chuang, I-Jung Tsai, Yong-Kwei Tsau, Meng-Yao Lu
AIM: Deferasirox is a new oral iron chelating agent with several cases reporting renal adverse events in recent years. Our aim was to identify the incidence of deferasirox-related Fanconi syndrome (FS) and its risk factors. METHODS: All transfusion-dependent thalassaemic patients who received deferasirox at the outpatient department of the National Taiwan University Hospital (NTUH) from January 2006 to February 2014 were evaluated. RESULTS: This cohort study included 57 patients, and mean age of deferasirox initiation was 18...
December 2015: Nephrology
Nakysa Hooman, Hassan Otukesh, Hassan Fazilaty, Ibrahim Torktaz, Rozita Hosseini, Babak Behnam
INTRODUCTION: Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in autosomal dominant or autosomal recessive form of distal renal tubular acidosis (DRTA). This study aimed to report deletion mutations of the AE1 and its impact on Iranian children with DRTA. MATERIALS AND METHODS: Twelve children with DRTA referred to Ali Asghar Children Hospital were investigated for all AE1 gene exons through polymerase chain reaction amplification, DNA sequencing, and bioinformatics analysis...
May 2015: Iranian Journal of Kidney Diseases
Sonia Sharma, Ankur Gupta, Sanjiv Saxena
Renal tubular acidosis (RTA) is essentially characterized by normal anion gap and hyperchloremic metabolic acidosis. It is important to understand that despite knowing the disease for 60-70 years, complexities in the laboratory tests and their interpretation still make clinicians cautious to diagnose and label types of tubular disorder. Hence, we are writing this mini-review to emphasize on the step wise approach to RTA with some understanding on its basic etiopathogenesis. This will definitely help to have an accurate interpretation of urine and blood reports in correlation with the clinical condition...
August 2015: Clinical and Experimental Nephrology
Fernando Santos, Flor A Ordóñez, Débora Claramunt-Taberner, Helena Gil-Peña
In the absence of a gastrointestinal origin, a maintained hyperchloremic metabolic acidosis must raise the diagnostic suspicion of renal tubular acidosis (RTA). Unlike adults, in whom RTA is usually secondary to acquired causes, children most often have primary forms of RTA resulting from an inherited genetic defect in the tubular proteins involved in the renal regulation of acid-base homeostasis. According to their pathophysiological basis, four types of RTA are distinguished. Distal type 1 RTA, proximal type 2 RTA, mixed-type 3 RTA, and type 4 RTA can be differentiated based on the family history, the presenting manifestations, the biochemical profile, and the radiological findings...
December 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Norma Guerra-Hernández, Mario Matos-Martínez, Karen Verónica Ordaz-López, María Dolores Camargo-Muñiz, Mara Medeiros, Laura Escobar-Pérez
INTRODUCTION: Renal tubular acidosis (RTA) is a rare disease characterized by a normal serum anion gap, sustained metabolic acidosis, low concentration of plasma bicarbonate, variable hyperchloremia and hypokalemia and conserved glomerular filtration rate. RTA is developed during the first year of life and produces failure to thrive and anorexia. Primary distal RTA (type 1) is a renal syndrome with a reduced ability to excrete the acid load through the collecting ducts and impairment to concentrate the urine causing polyuria and dehydration...
September 2014: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
Russell W Chesney
Severe vitamin D deficiency (reduction in serum 25(OH)D concentration) in infants and children can cause features of the Fanconi syndrome, including phosphaturia, glycosuria, aminoaciduria, and renal tubular acidosis. This indicates that vitamin D and its metabolites influence proximal tubule function. Filtered 25(OH)D bound to vitamin D binding protein (DBP) is endocytosed by megalin-cubilin in the apical membrane. Intracellular 25(OH)D is metabolized to 1,25(OH)2D or calcitroic acid by 1-α-hydroxylase or 24-hydroxylase in tubule cell mitochondria...
January 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"