distal tubular acidosis

BACKGROUND: Non-type-A intercalated cells (IC) in the collecting duct system express the luminal Cl - /HCO 3- exchanger pendrin and apical and/or basolateral H + -ATPases containing the B1 subunit isoform. Non-type-A ICs excrete bicarbonate during metabolic alkalosis. Mutations in the B1 subunit (ATP6V1B1) cause distal renal tubular acidosis due to its role in acid secretory type-A ICs. The function of B1 in non-type-A ICs has remained elusive. METHODS: We examined responses of Atp6v1b1-/- and Atp6v1b1+/+ mice to an alkali load and to chronic treatment with furosemide...

Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmonary alveolar proteinosis, and osteoporosis. We report the case of a 47-year-old Japanese woman who was initially diagnosed with renal tubular acidosis (RTA), Fanconi syndrome, and rickets. At the age of 3 years, she demonstrated a failure to thrive...

The morphological-compositional analysis of urinary stones allows distinguishing schematically several situations: dietary, digestive, metabolic/hormonal, infectious and genetic problems. Blood and urine testing are recommended in the first instance to identify risk factors of urinary stone disease in order to avoid recurrence or progression. The other objective is to detect a potential underlying pathology associated with high risk of urinary stone disease (e.g. primary hyperparathyroidism, primary or enteric hyperoxaluria, cystinuria, distal renal tubular acidosis) that may require specific management...

BACKGROUND: Renal tubular acidosis (RTA) is caused by various disruptions to the secretion of H+ by distal renal tubules and/or dysfunctional reabsorption of HCO3 - by proximal renal tubules, which causes renal acidification dysfunction, ultimately leading to a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal anion gap. With the development of molecular genetics and gene sequencing technology, inherited RTA has also attracted attention, and an increasing number of RTA-related pathogenic genes have been discovered and reported...

Neurological involvement in Sjogren's syndrome can have varied manifestations and can precede the classical sicca symptoms of Sjogren's syndrome. A 32-year-old woman presented with acute quadriparesis and dysarthria. She had severe hypokalemia, and an MRI of the brain showed a lesion in the central pons that was hyperintense on T2 and fluid-attenuated inversion recovery (FLAIR) sequences sparing the periphery, a trident appearance characteristic of central pontine myelinolysis (CPM). On further evaluation, she was found to have distal renal tubular acidosis (dRTA) due to primary Sjogren's syndrome...

Kidney intercalated cells (ICs) maintain acid-base homeostasis and recent studies have demonstrated that they function in the kidney's innate defense. To study kidney innate immune function, ICs have been enriched using vacuolar ATPase (V-ATPase) B1 subunit ( Atp6v1b1 )-Cre (B1-Cre) mice. Although Atp6v1b1 is considered kidney specific, it is expressed in multiple organ systems, both in mice and humans, raising the possibility of off-target effects when using the Cre-lox system. We have recently shown using single-cell RNA sequencing that the gene that codes for the V-ATPase G3 subunit (mouse gene: Atp6v1g3 ; human gene: ATP6V1G3 ; protein abbreviation: G3) mRNA is selectively enriched in human kidney ICs...

A 21-year-old euthyroid gentleman born to nonconsanguineous parents was diagnosed with bipolar affective disorder. He presented 4 years later with hypokalemic quadriparesis. On evaluation, he was found to have features of both proximal and distal renal tubular acidosis. Ophthalmologic examination by slit lamp confirmed the presence of the Kayser-Fleischer ring. The diagnosis of Wilson's disease was established with serum ceruloplasmin levels and 24-h urinary copper levels.Here is a rare clinical presentation of Wilson's disease in the form of hypokalemic muscle paralysis due to proximal renal tubular acidosis with distal tubule involvement...

Primary distal renal tubular acidosis (dRTA) is a rare tubulopathy characterised by the presence of hyperchloremic metabolic acidosis. It is caused by the existence of a defect in the function of the H+ -ATPase located on the luminal side of the α-intercalated cells or the Cl - HCO3- (AE1) anion exchanger located on the basolateral side. Patients do not acidify the urine after acid overload (NH4Cl) or after stimulating H+ secretion by obtaining a high intratubular concentration of an anion such as chlorine (pH is measured) or HCO3- (urinary pCO2 is measured)...

This study examined the profile of patients and the impact of diet on the risk of brushite stone formation under controlled, standardized conditions. Sixty-five patients with brushite nephrolithiasis were enrolled in the study. Metabolic, dietary, and 24 h urinary parameters were collected under the habitual, self-selected diet of the patients and the balanced mixed, standardized diet. The [13 C2 ]oxalate absorption, ammonium chloride, and calcium loading tests were conducted. All patients had at least one abnormality on the usual diet, with hypercalciuria (84...

Polyuria-polydipsia syndrome is a frequent symptom in pediatrics, primarily attributed to diabetes mellitus. In the context of diabetes insipidus, this syndrome can stem from central or nephrogenic factors. Sjögren's syndrome, an uncommon autoimmune disease in children, can affect multiple organs. Kidney involvement as described in adults is usually related to glomerular or tubular impairment, often linked to distal tubular acidosis. As a kidney involvement during childhood, Sjögren's syndrome has rarely been reported...

OBJECTIVE: To explore the clinical features and genetic etiology of a patient with primary distal renal tubular acidosis (dRTA). METHODS: A child who was diagnosed with primary dRTA at the Xi'an Children's Hospital in April 2021 due to poor appetite and persistent crying was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members...

BACKGROUND: Renal tubular acidosis (RTA) is a renal cause of non-anion-gap metabolic acidosis characterized by low urinary ammonia excretion. This condition has a low prevalence, and various congenital and acquired etiologies. To date, only a few cases of idiopathic RTA uncovered during pregnancy have been reported. CASE SUMMARY: A previously healthy 32-year-old Korean woman at 30 wk of gestation was admitted to Pusan National University Hospital with preterm labor...

BACKGROUND: Osteopetrosis and related osteoclastic disorders are a heterogeneous group of inherited diseases characterized by increased bone density. The aim of this study is to investigate the molecular spectrum and natural history of the clinical and radiological features of these disorders. METHODS: 28 patients and 20 families were enrolled in the study; 20 of them were followed for a period of 1-16 years. Targeted gene analysis and whole-exome sequencing (WES) were performed...

UNLABELLED: Abstract: Introduction: Familial Hyperkalemic Hypertension (FHHt) is an inherited disease characterized by hyperkalemia, hypertension and hyperchloremic acidosis. The primary defect is a hyperactive sodium chloride co-transporter, expressed in the renal distal tubule (DCT). FHHt is caused by mutation in either, WNK1, WNK4, KLHL3 or Cul3. The mechanism of hyperchloremic acidosis is not completely understood. METHODS: Clinical and genetic data were collected from the largest family with FHHt described in the literature...

BACKGROUND: Hereditary renal tubular disorders (HRTD) represent a group of genetic diseases characterized by disturbances in fluid, electrolyte, and acid-base homeostasis. There is a paucity of studies on pediatric HRTD in Egypt. In this study, we aimed to study the pattern, characteristics, and growth outcome of HRTD at an Egyptian medical center. METHODS: This study included children from one month to < 18-years of age with HRTD who were diagnosed and followed up at the Pediatric Nephrology Unit of Sohag University Hospital from January 2015 to December 2021...

Approximately 1% of all patients with Sjögren's syndrome (SS) are children. Unlike the adult form, in which sicca syndrome is the main presentation, in children, the most common clinical finding is recurrent enlargement of the salivary glands. In pediatric SS, extraglandular manifestations represent a significant feature and, among these, kidney manifestations are relevant. Kidney involvement is observed in 5-20.5% of children with SS, most frequently tubulointerstitial nephritis. This injury can lead to serious phenotypes, including distal kidney tubular acidosis with the development of severe hypokalemia, which can lead to ECG abnormalities, weakness, and hypokalemic periodic paralysis...

Sjogren's syndrome (SS) is an autoimmune disorder characterized by the destruction of exocrine glands by lymphocytic infiltration. Children and teenagers are less commonly affected. The initial symptoms of SS in teenagers might vary, depending on whether parotitis or other systemic organ involvement is present. Glandular involvement with the clinical hallmarks of dry eyes and dry mouth is common. Our case report is about a young woman who was admitted with acute flaccid paralysis and severe respiratory distress with extremely low serum potassium; further investigation revealed distal renal tubular acidosis...

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Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect. Tuberous sclerosis complex is an autosomal dominant inherited neurocutaneous syndrome with variable renal involvement. We describe a case of a six-year-old boy with tuberous sclerosis complex who developed distal RTA and renal stones.

BACKGROUND: Renal tubular acidosis is the principal clinical feature associated with tubulointerstitial nephritis in patients with primary Sjögren's syndrome. Renal tubular dysfunction due to interstitial nephritis has been considered the underlying pathophysiology connecting renal tubular acidosis and primary Sjögren's syndrome. However, the detailed mechanisms underlying the pathophysiology of renal tubular acidosis in primary Sjögren's syndrome is not fully understood...