Renal tubular acidosis

See Bonus NeoBriefs videos and downloadable teaching slides Metabolic acidosis can manifest in the neonatal period and cause significant morbidity and mortality in neonates. Preterm infants are at an even higher risk of developing metabolic acidosis. If the acidosis results from a dysfunction of acid-base homeostasis by the renal system, the disorder is known as renal tubular acidosis (RTA). In this review, we will describe renal development and normal acid-base homeostasis by the renal system. We will also discuss the pathophysiology of the different types of RTA, laboratory findings to aid in diagnosis, and treatment considerations...

Neurological manifestations such as polyneuropathy are reported in 8-49% of cases with Sjögren's Syndrome (SjS), but central nervous system involvement is seldom described. We report a 46-year-old woman with a history of SjS with distal renal tubular acidosis and autoimmune thyroiditis. She consulted in the emergency room for a five-days history of holocranial headache and explosive vomiting. Fundoscopy showed bilateral papilledema. Brain computed tomography (CT) without contrast showed diffuse encephalic edema, with effacement ofsulci and restriction ofperitruncal cisterns...

UNLABELLED: Sjogren's syndrome is a rare chronic autoimmune disease characterised by dry eyes and dry mouth due to autoimmune destruction of the lacrimal and salivary glands, which can occur concurrently with other autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, or thyroiditis. It can lead to renal complications such as interstitial nephritis and glomerulonephritis, with distal/ type 1 renal tubular acidosis which may result in life-threatening electrolyte imbalance...

Sjögren's syndrome (SS) is a systemic chronic autoimmune disorder that classically affects the exocrine glands. Only 15% of the patients with primary SS (pSS) develop extraglandular symptoms involving the lungs, kidneys, joints, nervous system, and skin. Hypokalaemic paralysis is a rare presentation. The most common cause of hypokalaemia is distal renal tubular acidosis. The prevalence of clinically significant lung involvement in pSS is 9-20 %. Primary SS is an indolent disease leading to increased morbidity and poor quality of life...

Metabolic acidosis is a frequent complication in non-transplant chronic kidney disease (CKD) and after kidney transplantation. It occurs when net endogenous acid production exceeds net acid excretion. While nephron loss with reduced ammoniagenesis is the main cause of acid retention in non-transplant CKD patients, additional pathophysiological mechanisms are likely inflicted in kidney transplant recipients. Functional tubular damage by calcineurin inhibitors seems to play a key role causing renal tubular acidosis...

V-ATPase is an ATP hydrolysis-driven proton pump involved in the acidification of intracellular organelles and systemic acid-base homeostasis through H+ secretion in the renal collecting ducts. V-ATPase dysfunction is associated with hereditary distal renal tubular acidosis (dRTA). ATP6V1B1 encodes the B1 subunit of V-ATPase that is integral to ATP hydrolysis and subsequent H+ transport. Patients with pathogenic ATP6V1B1 mutations often exhibit an early onset of sensorineural hearing loss. However, the mechanisms underlying this association remain unclear...

INTRODUCTION: Renal involvement of primary biliary cholangitis (PBC) usually presents as distal renal tubular acidosis. Proximal tubular (PT) dysfunctions in PBC were rarely reported with unclear clinicopathological characteristics and renal prognosis. METHODS: We identified 11 cases of PBC with PT dysfunctions (PBC-PT). Their medical document, kidney pathology, and follow-up data were retrospectively reviewed and analyzed. RESULTS: The 11 PBC-PT patients were mainly middle-aged (57...

Renal tubular acidosis type 1 (RTA-1) is a disorder where kidneys are unable to acidify urine, which ultimately results in normal anion gap metabolic acidosis. Its initial presentations and subsequent clinical manifestations can vary depending on the underlying cause and severity of the disease. We report a case of a 26-year-old female with a recent history of complicated pregnancy. She presented to a tertiary care hospital with quadriplegia and shortness of breath and required ventilator support. The extensive workup revealed that the patient had RTA-1 in association with Sjögren's syndrome...

Toluene poisoning is diagnosed based on toluene exposure history and the level of hippuric acid in the urine. Regular blood and urine tests are performed for follow-up. A 54-year-old man collided with a utility pole while driving a car and was rushed to our hospital with a complaint of loss of consciousness. Although the trauma was minor, toluene poisoning was suspected based on the presence of impaired consciousness, occupation is a painting job that involves toluene, and the presence of metabolic acidosis of the normal anion gap...

Hypokalemia due to loss of potassium through the kidneys can be caused by distal Renal Tubular Acidosis (dRTA). The etiology of dRTA can be primary due to genetic defects or secondary to autoimmune diseases, especially Sjogren's syndrome (SS). The occurrence of dRTA in SS patients is low, at only 5% of cases. This case was interesting because dRTA was the initial clinical manifestation that led to the diagnosis of SS in the patient. A 48-year-old woman came with complaints of recurrent weakness. The patient was routinely hospitalized with severe hypokalemia and received potassium supplementation...

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Renal tubular acidosis (RTA) can lead to renal calcification in children, which can cause various complications and impair renal function. This review provides pediatricians with a comprehensive understanding of the relationship between RTA and renal calcification, highlighting essential aspects for clinical management. The article analyzed relevant studies to explore the prevalence, risk factors, underlying mechanisms, and clinical implications of renal calcification in children with RTA. Results show that distal RTA (type 1) is particularly associated with nephrocalcinosis, which presents a higher risk of renal calcification...

Sarcoidosis presents in a variety of ways, but historically, renal involvement has been considered rare with an incidence of 0.7% and is seldom the presenting feature of the illness. Concomitant involvement of kidney and bone marrow is extremely rare. Atypical forms of presentation, such as in this case, may pose a true diagnostic challenge. A 20-year-old African-American male presented to the emergency department with vague symptoms including fatigue, malaise, anorexia, right-sided lower back pain, and nausea...

Tacrolimus, widely known as Prograf, has become the preferred immunosuppressant for preventing graft rejection in solid organ transplant recipients, particularly in steroid-sparing regimens. Its efficacy and reduced risk of acute and chronic rejection compared to cyclosporine have made it the preferred treatment option for transplant patients. However, tacrolimus has drawbacks as it is associated with adverse effects, such as renal tubular necrosis, kidney failure, hypertension, metabolic acidosis, and new-onset diabetes mellitus...

Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000-200,000 live births. It is caused by pathogenic variants of the cystinosin (CTNS) gene that lead to impaired cystine transport from lysosomes to cystosol, resulting in cystine accumulation in lysosomes and subsequent cellular dysfunction. The initial manifestation, cystine accumulation in proximal tubular cells (PTCs), causes renal Fanconi syndrome, which presents with proximal renal tubular acidosis and generalized dysfunction of the proximal tubule, including the presence of polyuria, glycosuria, phosphaturia, aminoaciduria, tubular proteinuria, growth retardation, and rickets...

OBJECTIVE: To analyze the differences of clinical manifestations and laboratory features between primary Sjögren's syndrome (pSS) patients with positive and negative anti-Sjögren's syndrome type B (SSB) antibody. METHODS: The clinical data of pSS patients hospitalized in Department of Rheumato-logy and Immunology, Peking University Third Hospital were retrospectively analyzed to investigate the differences of clinical and laboratory features between anti-SSB positive and negative groups...

Blood gas analysis is a diagnostic tool to evaluate the partial pressures of gas in blood and acid-base content. The use of blood gas analysis enables a clear understanding of respiratory, circulatory, and metabolic disorders. The arterial blood gas (ABG) explicitly analyzes blood taken from an artery, assessing the patient's partial pressure of oxygen (PaO2) and carbon dioxide (PaCO2) pH (acid/base). PaO2 indicates the oxygenation status, and PaCO2 indicates the ventilation status (chronic or acute respiratory failure)...

Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures, renal tubular acidosis, and hyperammonemia. The aim of this study was to investigate the neurological symptoms in CPT I deficiency and different outcomes with respect to predisposing factors for sequela and to draw attention to the neurological impairment that may develop during the course of the disease...

We report clinical and etiological profile of 19 children (10 males) with renal rickets managed in the years 2021-2022. Median (IQR) age of presentation was 60 (18-96) months. The commonest cause was renal tubular acidosis (n=8). Genetic analysis revealed the diagnosis in 83% subjects (5 out of 6 tested).

A 26-year-old female was hospitalized with acute lower motor neuron quadriplegia. Laboratory tests pointed to the presence of distal renal tubular acidosis, which was characterized by hyperchloremic metabolic acidosis, severe hypokalemia, alkaline urine, and a positive urinary anion gap. She also had aminoaciduria, hyperphosphaturia, hypophosphatemia, and normoglycemic glycosuria, all of which are indicative of dysfunction of proximal tubules. Further investigation confirmed Sjogren's syndrome. Strangely, our patient also experienced carpopedal spasms and had low calcium and magnesium levels...