The Natural History of Distal Renal Tubular Acidosis

2015 ◽  
pp. 137-144 ◽  
Author(s):  
O. M. Wrong ◽  
T. G. Feest
Keyword(s):  
Natural History ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
History Of ◽  
Renal Tubular

Natural history of primary distal renal tubular acidosis treated since infancy

1982 ◽  
Vol 101 (5) ◽  
pp. 669-676 ◽  
Author(s):  
Juan Rodriguez-Soriano ◽  
Alfredo Vallo ◽  
Gonzalo Castillo ◽  
Roberto Oliveros
Keyword(s):  
Natural History ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
History Of ◽  
Renal Tubular

scholarly journals NEPHROLOGY: The natural history of renal tubular acidosis: Lightwood's syndrome revisitied

1971 ◽  
Vol 5 (8) ◽  
pp. 382-382 ◽  
Author(s):  
Martin A Nash ◽  
Antonio D Torrado ◽  
Eddie S Moore ◽  
Juan Rodriguez-Soriano ◽  
Ira Greifer ◽  
...  
Keyword(s):  
Natural History ◽  
Renal Tubular Acidosis ◽  
History Of ◽  
Renal Tubular

scholarly journals Atypical clinical presentation of distal renal tubular acidosis: a case report registered in Amazonas, Brazil

2020 ◽  
Vol 42 (3) ◽  
pp. 380-383
Author(s):  
Daniel Monteiro Queiroz ◽  
Rolando Guillermo Vermehren Valenzuela ◽  
Ana Wanda Guerra Barreto Marinho ◽  
Samanta Samara Bicharra dos Santos ◽  
Danielle Ochoa da Silva ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Skin Lesions ◽  
Clinical Findings ◽  
Distal Renal Tubular Acidosis ◽  
Lower Limbs ◽  
Hypokalemic Paralysis ◽  
Immunological Tests ◽  
History Of ◽  
Similar Report ◽  
Renal Tubular

ABSTRACT We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution. In subsequent investigations, the patient also had nephrocalcinosis, nephrolithiasis, hyperchloremic metabolic acidosis and persistent alkaline urinary pH. The findings were consistent with distal renal tubular acidosis as the cause of hypokalemic paralysis. Clinical findings, immunological tests and the result of skin biopsy suggested primary Sjögren's syndrome as an underlying cause. The patient developed azotemia due to obstructive nephrolithiasis. All the features presented in this case are an unusual manifestation of distal renal tubular acidosis; so far, we are not aware of a similar report in the literature.

P0058THE ROLE OF GENETICS IN INCOMPLETE DISTAL RENAL TUBULAR ACIDOSIS IN NEPHROLITHIASIS

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Viola D'Ambrosio ◽  
Eugenio Sangiorgi ◽  
Bernhard Hess ◽  
Giovanni Gambaro ◽  
Pietro Manuel Ferraro
Keyword(s):  
Metabolic Acidosis ◽  
Genetic Testing ◽  
Family History ◽  
Renal Tubular Acidosis ◽  
Kidney Stones ◽  
Distal Renal Tubular Acidosis ◽  
Urinary Acidification ◽  
Stone Formers ◽  
History Of ◽  
Renal Tubular

Abstract Background and Aims Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in a hyperchloremic non-anion gap metabolic acidosis, hypokalemia and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to nephrocalcinosis and recurrent nephrolithiasis, impaired renal function and bone demineralization due to reabsorption of bicarbonate and phosphate complexed with calcium from the bone as a buffer for metabolic acidosis. Distal RTA is therefore a well-defined entity that can be diagnosed by genetic testing of five genes known to be disease-causative (ATPV1B1 and ATPV0A4, FOXi1, SLC4A1 and WDR72). Incomplete distal renal tubular acidosis (idRTA) is defined as impaired urinary acidification that does not lead to overt metabolic acidosis and therefore can be diagnosed if patients fail to adequately acidify urine after an ammonium chloride (NH4Cl) challenge or other acid load tests. It is observed in 10-20% of calcium stone formers. It is still uncertain whether idRTA represents a distinct entity or it is part of the dRTA spectrum and whether it is caused by mutations in the same genes of overt dRTA. Heterozygous ATP6V1B1 pathogenic variants have been linked to idRTA, as well as mutations in SLC4A1. Method In this cross-sectional study we investigated a group of 23 stone formers whose clinical features were suspicious of idRTA: a history of nephrolithiasis or nephrocalcinosis with morning urinary pH > 5.8 in the absence of overt metabolic acidosis. They therefore underwent a simplified NH4Cl challenge and were found to have impaired urinary acidification ability. These patients were then analyzed by genetic testing with sequencing of 4 genes: SLC4A1, ATP6V1B1, ATP6V0A4 and FOXi1. Results Two unrelated individuals were found to have mutations in SLC4A1: 2 different variants in heterozygosis that had never been described before. The first patient was a 47-year old man, recurrent stone former (mainly apatite, but also some calcium oxalate), with hypercalciuria but normal bone mineral density (BMD). His family history revealed 1 uncle with kidney stones. The second patient was a 56-year old woman with a diagnosis of osteogenesis imperfecta, a history of reduced BMD and severe restrictive ventilation disorder and passed 1 stone (35% apatite, 65% CaOx). She was found to have bilateral nephrocalcinosis and hypocitraturia. Her family history revealed a sister with kidney stones. Conversely, 21 patients did not show any mutations for the genes sequenced, leading to a prevalence of genetic mutations of 8.7%. This is a much lower figure compared with overt dRTA, in which only 30% of patients with a clinical diagnosis of hereditary dRTA have no identified causative mutations in the currently known genes. Conclusion This suggests the involvement of other genes (WDR72 or others) or non-genetic tubular dysfunction in the pathogenesis of idRTA in stone formers.

A Novel Mutation in the Anion Exchanger 1 Gene Is Associated With Familial Distal Renal Tubular Acidosis and Nephrocalcinosis

PEDIATRICS ◽  
2003 ◽  
Vol 112 (6) ◽  
pp. 1361-1367 ◽  
Author(s):  
L. Cheidde ◽  
T. C. Vieira ◽  
P. R. M. Lima ◽  
S. T. O. Saad ◽  
I. P. Heilberg
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Novel Mutation ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

Bone mineral density and histology in distal renal tubular acidosis

2001 ◽  
Vol 59 (3) ◽  
pp. 1086-1093 ◽  
Author(s):  
Somnuek Domrongkitchaiporn ◽  
Chonlatrip Pongsakul ◽  
Wasana Stitchantrakul ◽  
Vorachai Sirikulchayanonta ◽  
Boonsong Ongphiphadhanakul ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Mineral Density ◽  
Renal Tubular

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis

2021 ◽  
Author(s):  
Wencong Guo ◽  
Qijing Song ◽  
Ruixiao Zhang ◽  
Qing Xin ◽  
Zhiying Liu ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Chinese Patients ◽  
Phenotypic Analysis ◽  
Renal Tubular

PRO9 ADV7103 Treatment Adherence in Patients with Distal Renal Tubular Acidosis (DRTA)

2021 ◽  
Vol 24 ◽  
pp. S199
Author(s):  
P. Goodyer ◽  
M. Manso ◽  
C. Guittet ◽  
A. Bertholet-Thomas
Keyword(s):  
Treatment Adherence ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Renal Tubular

scholarly journals Distal Renal Tubular Acidosis in Mice Lacking the AE1 (Band3) Cl−/HCO3−Exchanger (slc4a1)

2007 ◽  
Vol 18 (5) ◽  
pp. 1408-1418 ◽  
Author(s):  
Paul A. Stehberger ◽  
Boris E. Shmukler ◽  
Alan K. Stuart-Tilley ◽  
Luanne L. Peters ◽  
Seth L. Alper ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Renal Tubular
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