Renal Fanconi syndrome in distal renal tubular acidosis

Watanabe, Toru

doi:10.1007/s00467-017-3638-z

Cited by 6 publications

(5 citation statements)

References 6 publications

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“…Fanconi syndrome, Bartter syndrome, distal renal tubular acidosis and hypercalcaemia) and because symptoms can overlap during disease evolution (e.g. patients with severe acidosis or hypokalaemia could have a transient Fanconi syndrome) [ 50 ], we strongly recommend using targeted phenotype-associated gene panels or exome-based panels (targeted ES) whenever available. This strategy also allows the identification of variants in genes presenting as clinical phenocopies; a frequent example is the identification of CLCNKB or HNF1B variants in patients with a Gitelman syndrome phenotype.…”

Section: Tubulopathiesmentioning

confidence: 99%

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Knoers

Antignac

Bergmann

et al. 2021

Nephrology Dialysis Transplantation

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The overall diagnostic yield of massively parallel sequencing (MPS) based-tests in patients with chronic kidney disease (CKD) is around 30% for pediatric cases and 6-30% for adult cases. These figures should encourage nephrologists to frequently use genetic testing as a diagnostic means for their patients, but in reality several barriers appear to hinder the implementation of NGS diagnostics in routine clinical practice. In this paper, we aim to support the nephrologist to overcome these barriers. After a detailed discussion on the general items that are important to genetic testing in nephrology, namely (1) genetic testing modalities and their indications, (2) clinical information needed for high-quality interpretation of the genetic test, (3) clinical benefit of genetic testing and (4) genetic counselling, we will describe each of these items more specifically for the different groups of genetic kidney diseases and for CKD of unknown origin.

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Section: Tubulopathiesmentioning

confidence: 99%

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Knoers

Antignac

Bergmann

et al. 2021

Nephrology Dialysis Transplantation

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“…Although the exact mechanism underlying reversible proximal tubular dysfunction is unclear, it has been suggested to involve hypokalemic nephropathy32,94 and/or dysfunction of the receptor-mediated endosomal pathway in renal proximal tubule cells 3,97. The chloride transporter ClC-5 (2Cl − –H + exchanger) is expressed in the apical endosomes of renal proximal tubules containing H + -ATPase.…”

Section: Atypical Clinical Features Of Drtamentioning

confidence: 99%

“…Picollo et al demonstrated that low extracellular pH or acidosis inhibits ClC-5 function by reducing the driving force for 2Cl − –H + exchange 99. Therefore, inhibition of ClC-5 function due to systemic acidosis may lead to partial renal Fanconi syndrome in patients with dRTA 97…”

Section: Atypical Clinical Features Of Drtamentioning

confidence: 99%

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead

Watanabe¹

2018

PHMT

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Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A intercalated cells (A-ICs) in the collecting tubule. dRTA is characterized by persistent hyperchloremia, a normal plasma anion gap, and the inability to maximally lower urinary pH in the presence of systemic metabolic acidosis. Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Mutations in genes encoding three distinct transport proteins in A-ICs have been identified as causes of dRTA, including the B1/ATP6V1B1 and a4/ATP6V0A4 subunits of the vacuolar-type H+-ATPase (H+-ATPase) and the chloride–bicarbonate exchanger AE1/SLC4A1. Homozygous or compound heterozygous mutations in ATP6V1B1 and ATP6V0A4 lead to autosomal recessive (AR) dRTA. dRTA caused by SLC4A1 mutations can occur with either autosomal dominant or AR transmission. Red blood cell abnormalities have been associated with AR dRTA due to SLC4A1 mutations, including hereditary spherocytosis, Southeast Asia ovalocytosis, and others. Some patients with dRTA exhibit atypical clinical features, including transient and reversible proximal tubular dysfunction and hyperammonemia. Incomplete dRTA presents with inadequate urinary acidification, but without spontaneous metabolic acidosis and recurrent urinary stones. Heterozygous mutations in the AE1 or H+-ATPase genes have recently been reported in patients with incomplete dRTA. Early and sufficient doses of alkali treatment are needed for patients with dRTA. Normalized serum bicarbonate, urinary calcium excretion, urinary low-molecular-weight protein levels, and growth rate are good markers of adherence to and/or efficacy of treatment. The prognosis of dRTA is generally good in patients with appropriate treatment. However, recent studies showed an increased frequency of chronic kidney disease (CKD) in patients with dRTA during long-term follow-up. The precise pathogenic mechanisms of CKD in patients with dRTA are unknown.

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“…It is characterized by disturbances in the concentration of renal function (hipostenuria, polyuria), sometimes moderate proteinuria, generalized hyperaminociduria, elevated excretion of phosphates, calcium, glucose, citrates in patients. Urine reaction is neutral or alkaline (Lichter-Konecki et al, 2001;Tasic et al, 2008;Watanabe, 2017).…”

Section: Clinical Evidencementioning

confidence: 99%

“…Aetiopathogenesis It is believed that the genetically determined defects of enzymatic phosphorylation in the renal tubules (combined tubulopathy); deficiency of enzymes from the complexes II and III (succinate dehydrogenase and cytochrome oxidase) of the respiratory chain are the basis of the disease. Some authors believe that the basis of the disease is mitochondrial genesis (Lichter-Konecki et al, 2001;Watanabe, 2017).…”

Section: Introductionmentioning

confidence: 99%

Hereditary tubulopathies including the associated bone disease

Ryznychuk

Хмара

Kryvchanska

et al. 2018

Regul. Mech. Biosyst.

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Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood through the glomeruli into tubules, which determines the development of the disease. This review addresses the tubulopathies accompanying bone disease, namely: de Tony-Debre-Fanconi syndrome (autosomal dominant, autosomal recessive, X-linked), renal distal metabolic acidosis type I (classic, autosomal dominant, autosomal recessive inheritance), renal distal tubular metabolic acidosis I (autosomal dominant, autosomal recessive inheritance) and type II (autosomal recessive inheritance accompanying delayed mental development and eye disorders), combined distal and proximal renal tubular metabolic acidosis type III (autosomal recessive inheritance characterized by osteoporosis), hypophosphatemia rickets (X-linked dominant, autosomal dominant, primary hypercalciuria, autosomal recessive inheritance). However, the diagnosis of tubulopathy remains complex and requires expensive laboratory equipment and specialist expertise; it can be diagnosed in children showing the following symptoms: impaired growth, vitamin D resistant rickets (lower limb deformities between 2 and 3 years of age). In the evaluation of such patients urine analysis is commonly used (levels of calcium, phosphorus, pH, bicarbonate, sodium, potassium, glucose, creatinine, protein, amino acids), blood count (levels of creatinine, uric acid, alkaline phosphatase, glucose, pH and sodium, bicarbonate, potassium, chloride, calcium, phosphorus ions), ultrasound of the kidneys to detect nephrocalcinosis. Determination of serum parathyroid hormone concentration, vitamin D metabolites, aldosterone and plasma renin activity, cysteine lymphocyte concentration (suspicion to diagnose cystinosis) and ophthalmologist examination may also be used as additional diagnostic methods. Despite the fact that most tubulopathies can be diagnosed clinically, molecular genetic studies are needed to clarify the type of inheritance and prognosis. The use of calcitriol will help in the management of phosphorous levels in the blood. Correction of vitamin D deficiency state is not required. Calcitriol supplementation may prevent secondary hyperparathyroidism resulting from increased phosphate intake.

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Renal Fanconi syndrome in distal renal tubular acidosis

Cited by 6 publications

References 6 publications

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead

Hereditary tubulopathies including the associated bone disease

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