Epidemiology of Distal Renal Tubular Acidosis: A Study Using Linked UK Primary Care and Hospital Data

Introduction: Distal renal tubular acidosis (dRTA), or RTA type 1, a rare inherited or acquired disease, is a disorder of the distal tubule caused by impaired urinary acid secretion. Due to associated conditions and nonspecific symptoms, dRTA may go undetected. This analysis aims to estimate the prevalence of dRTA in the UK Clinical Practice Research Datalink (CPRD) databases and extrapolate it to European Union Five (EU5) populations. Methods: A retrospective analysis was conducted using the CPRD GOLD database and linked Hospital Episode Statistics (HES) data to identify diagnosed and potentially undiagnosed or miscoded patients (suspected patients). Patients’ records with at least one diagnosis code for dRTA, RTA, specific autoimmune diseases, or renal disorders recorded between January 1987 and November 2017 were obtained and analyzed. An algorithm was developed to detect potentially undiagnosed/miscoded dRTA, based on associated conditions and prescriptions. Results: A total of 216 patients with diagnosis of RTA or dRTA were identified (with 98 linked to hospital data), and 447 patients were identified as having suspected dRTA. dRTA prevalence for 2017 was estimated between 0.46 (recorded cases, of which 22.1% were considered primary) and 1.60 when including suspected cases (7.6% primary) per 10,000 people. Prescription and clinical records of diagnosed patients revealed a wide range of comorbidities and a need for pharmacological treatment to manage associated symptoms. Conclusion: The study provides new estimates of dRTA prevalence in Europe and suggests that patients may often be unreported or miscoded, potentially confounding appropriate disease management.

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Low Molecular Weight Proteinuria in Children with Distal Renal Tubular Acidosis

PRILOZI ◽

10.2478/prilozi-2018-0028 ◽

2018 ◽

Vol 39 (1) ◽

pp. 91-95

Author(s):

Shpetim Salihu ◽

Katerina Tosheska ◽

Svetlana Cekovska ◽

Zoran Gucev ◽

Momir Polenakovic ◽

...

Keyword(s):

Molecular Weight ◽

Renal Tubular Acidosis ◽

Sodium Dodecyl ◽

Disease Onset ◽

Distal Tubule ◽

Distal Renal Tubular Acidosis ◽

Low Molecular Weight ◽

Low Molecular Weight Proteinuria ◽

Renal Tubular ◽

Biochemical Features

AbstractDistal renal tubular acidosis (dRTA) (MIM #267300, #602722 and #179800) is a rare inherited tubulopathy characterized by the inability of the distal tubule to acidify the urine with consecutive systemic acidosis. The clinical features include polyuria, polydipsia, poor appetite, failure to thrive, short stature and rickets. Prominent biochemical features are hypokalemia, hypercalciuria and hypocitraturia. There are reports on patients who presented with unusual biochemical features such as low molecular proteinuria, hypophosphatemia, hypouricemia, generalized hyperaminioaciduria, hyperoxaluria and other making diagnostic confusion to the clinicians. In this work, we report on a series of 8 children with clinically, biochemically and genetically proven dRTA who present with low molecular proteinuria at the disease onset. With metabolic compensation of the disease, there was complete resolution of the low molecular weight protenuria and other proximal tubular abnormalities in all children. Late recognition of the disease with long standing hypokalemia and acidosis may result in abnormal expression and function of the transporters in the proximal tubules. Sodium dodecyl sulphate polyacrylamide gel electrophoeresis is an accurate method for detection and follow up of patients with low molecular weight proteinuria.

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Distal Renal Tubular Acidosis: ERKNet/ESPN Clinical Practice Points

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab171 ◽

2021 ◽

Author(s):

Francesco Trepiccione ◽

Steven B Walsh ◽

Gema Ariceta ◽

Olivia Boyer ◽

Francesco Emma ◽

...

Keyword(s):

Clinical Practice ◽

Metabolic Control ◽

Renal Tubular Acidosis ◽

Kidney Diseases ◽

Growth Failure ◽

Distal Tubule ◽

Distal Renal Tubular Acidosis ◽

Reference Network ◽

Adequate Treatment ◽

Renal Tubular

Abstract Distal renal tubular acidosis (dRTA) is characterised by an impaired ability of the distal tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone disease, growth failure, urolithiasis and hypokalaemia. Due to its rarity, there is a limited evidence to guide diagnosis and management, however, available data strongly suggest that metabolic control of the acidosis by alkali supplementation can halt or revert almost all complications. Despite this, cohort studies show that adequate metabolic control is present in only about half of patients, highlighting problems with treatment provision or adherence. With these clinical practice points the authors, part of the working groups tubulopathies in the European Rare Kidney Disease Reference network (ERKnet) and inherited kidney diseases of the European Society for Paediatric Nephrology (ESPN) aim to provide guidance for the management of patients with dRTA to facilitate adequate treatment and establish an initial best practice standard against which treatment of patients can be audited.

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