[PDF] Top 20 Nephrocalcinosis Is Associated With Renal Tubular Acidosis in Children With X-Linked Hypophosphatemia
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Nephrocalcinosis Is Associated With Renal Tubular Acidosis in Children With X-Linked Hypophosphatemia
... As we have recently reported, at diagnosis all patients had a normal serum calcium concentration, an inappropriately normal serum concen- tration of 1,25 (OH), vitamin D, for the degree [r] ... See full document
5
A Novel Mutation in the Anion Exchanger 1 Gene Is Associated With Familial Distal Renal Tubular Acidosis and Nephrocalcinosis
... outpatient Renal Stone Clinic of the Nephrology Division, Universidade Federal de Sa˜o Paulo, because of NC and calculus ...the children at age 3 and 6 years because of failure to ... See full document
9
Thiazide Diuretics Arrest the Progression of Nephrocalcinosis in Children With X-Linked Hypophosphatemia
... Objective. X-linked hypophosphatemia (XLH) is characterized clinically by rickets, hypophos- phatemia, and ...is associated with increased urinary calcium excretion and ...of ... See full document
6
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)
... this renal tubular disorder will facilitate the iden- tification of children at risk from this disease, and such muta- tional analysis may help to complement the annual urinary screening program of ... See full document
9
Self-limited Neonatal Familial Hyperparathyroidism Associated With Hypercalciuria and Renal Tubular Acidosis in Three Siblings
... Immediately after a diagnosis of neonatal familial hyperparathyroidism associated with renal tubular acidosis and nephrocalcinosis had been made, a low-calcium and vitamin D-free formula[r] ... See full document
9
Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report
... metabolic acidosis and hypokal- emia (Table ...our renal unit because of recurrent hypokalemia, hyperchloremic metabolic acidosis and growth ... See full document
6
Importance of early audiologic assessment in distal renal tubular acidosis
... Figure 2 Genotyping of kindred. Single nucleotide polymorphisms in A) ATP6V0A4 and in B) ATP6V1B1 were subject to polymerase chain reaction amplification followed by specific restriction digestion, and this was used to ... See full document
5
On the mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA)
... of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA) was investigated in 10 patients, each of whom had impaired proximal renal ... See full document
14
CONCEPTUAL STUDY OF MASANUMASIK GARBHA VRIDDHI AS REFERENCE TO BRIHTRAYEES
... System. Renal Involvement in Sjogren’s Syndrome has been known for a Long Time and Has Become one of the most commonly Encountered Extra-Glandular Manifestation ... See full document
14
Physiological and pathophysiological roles of the electrogenic Na+ HCO3– cotransporter NBCe1
... azotemia, renal failure, and bone dysplasia ...isolated renal proximal tubules form W516X KI mice, the NBCe1 activity as analyzed by cell pH measurement was severely reduced to less than 20% of the ... See full document
8
Clinical review: Renal tubular acidosis – a physicochemical approach
... the renal contribution to acid–base homeostasis based on the excretion of these ...called renal tubular ...and renal tubular acidosis represents a problem for Stewart ... See full document
8
Is Nephrocalcinosis in Preterm Neonates Harmful for Long-term Blood Pressure and Renal Function?
... and tubular function (low plasma bicarbonate, high urine calcium/citrate ...is associated with high blood pressure and relatively small kidneys, as well as (distal) tubular dysfunction (low plasma ... See full document
10
Lowe syndrome
... flanking linked markers [25], DNA analysis can reveal the same molecular defect (in a heter- ozygous state) as that previously identified in the ...affected children show the ... See full document
5
Renal Tubular Acidosis in Children Treated With Trimethoprim-Sulfamethoxazole During Therapy for Acute Lymphoid Leukemia
... All measurements of serum bicarbonate concentration (Sbc) and serum chloride concen- tration were evaluated for the 6 months prior to completion of chemotherapy and for 1 year thereafter[r] ... See full document
5
Attainment and Maintenance of Normal Stature with Alkali Therapy in Infants and Children with Classic Renal Tubular Acidosis
... With sustained alkali therapy: (a) each patient attained and maintained normal stature; (b) the mean height of the 10 patients increased from the 1.4±4 to the 37.0±33 percentile (of a normal age- and sex-matched ... See full document
20
Renal Tubular Acidosis in a Patient with Recurrent Metabolic Alkalosis
... Correspondingly, the percent of excretion of filtered bicarbonate also increased from 0.05% dur- ing alkalosis to 4% with development of metabolic acidosis and normalization of serum pot[r] ... See full document
6
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead
... mouse Atp6v1b1 gene leads to a mild acid–base disturbance with implica- tions for kidney stone disease. Cell Physiol Biochem. 2018;47(3):1095–1107. 117. Alexander RT, Cordat E, Chambrey R, Dimke H, Eladari D. ... See full document
10
The Effect of Recombinant Human Growth Hormone in Children With X-Linked Hypophosphatemia
... Results. The average age (mean 6 SEM) of the pa- tients at the start of the study was 5.6 6 1.4 years. Growth hormone therapy improved the height standard devia- tion score (z-score) from a baseline of 2 2.66 6 0.21 to 2 ... See full document
8
Renal Tubular Acidosis with Muscle Paralysis
... I renal tubular acidosis also called the distal renal tubular acidosis 4 ...I renal tubular acidosis is characterized by a hyperchloremic metabolic ... See full document
7
Renal Tubular Acidosis in Infants: the Several Kinds, Including Bicarbonate Wasting, Classic Renal Tubular Acidosis
... severe acidosis and its rapid recurrence after reduction in alkali ...severe acidosis the urinary pH was >7, a finding reported frequently in infants with apparently classic RTA and “alkali-resistant” ... See full document
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