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Global Pediatric Health 2024Carbonic anhydrase II deficiency is an extremely rare inborn error of metabolism that constitutes a triad osteopetrosis, renal tubular acidosis and intracerebral...
Carbonic anhydrase II deficiency is an extremely rare inborn error of metabolism that constitutes a triad osteopetrosis, renal tubular acidosis and intracerebral calcification. Unlike other subtypes of osteopetrosis, the presence of developmental delay and relative infrequency of skeletal fractures may not be a typical signs of symptoms indolent trajectory. This case report demonstrates a 11-year-old boy who had a bilateral midshaft tibial fracture despite low mechanism of injury. He was found to have severe respiratory distress with hypokalemia shortly after arriving to the emergency department venous blood gas (VBG) showed moderate metabolic acidosis. Potassium was corrected but he persistently had low potassium level despite frequent corrections. He was then started on sodium bicarbonate boluses. Whole exome sequencing (WES) was sent, and result was consistent with autosomal recessive osteopetrosis type III with renal tubular acidosis (RTA) evident by pathologic variant on gene confirming the diagnosis of carbonic anhydrase II (CA II) deficiency consistent with the unique Arabic mutation. Conversely, low mechanism of fracture injury in the context of severe form of fracture type should raise the concern of (CA II) deficiency especially in a pediatric patient who show no signs of developmental of cognitive delay.
PubMed: 38328522
DOI: 10.1177/2333794X241230873 -
NeoReviews Feb 2024See Bonus NeoBriefs videos and downloadable teaching slides Metabolic acidosis can manifest in the neonatal period and cause significant morbidity and mortality in... (Review)
Review
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. Understanding RTA will help neonatal clinicians recognize and diagnose an infant affected by RTA and initiate treatment in a timely manner.
Topics: Infant; Humans; Infant, Newborn; Acidosis, Renal Tubular; Infant, Premature; Kidney; Homeostasis
PubMed: 38296789
DOI: 10.1542/neo.25-2-e99 -
JNMA; Journal of the Nepal Medical... Sep 2023Sjogren'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...
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. We present a case of a 35-year-old female who presented with complaints of multiple episodes of muscle weakness. Type 1 renal tubular acidosis was discovered to be the cause of her symptoms which lead to the subsequent diagnosis of Sjogren's syndrome. This is rare presentation of Sjogren's syndrome, and it poses a challenge to diagnosis. Early detection and diagnosis of Sjogren's syndrome might be difficult due to existing diagnostic criteria, which contributes to a higher likelihood of missed diagnosis.
KEYWORDS
case reports; hypokalemia; renal tubular acidosis; Sjogren's syndrome.
Topics: Female; Humans; Adult; Hypokalemia; Sjogren's Syndrome; Acidosis, Renal Tubular; Paralysis; Kidney
PubMed: 38289796
DOI: 10.31729/jnma.8266 -
Mediterranean Journal of Rheumatology Dec 2023Sjögren'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...
A Conundrum of Severe Hypokalaemic Quadriparesis, Acute Kidney Injury, and Lung Involvement as the Initial Presentation of Catastrophic Primary Sjögren's Syndrome: Is it a New Entity? A Case Report.
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. We present a case of a 40-year-old female with severe hypokalaemic paralysis, tubulointerstitial nephritis, and lung involvement as the initial presentation of catastrophic pSS without sicca symptoms. The course of hospitalisation was complicated by ventilator-associated pneumonia. She was managed with broad spectrum antibiotics, five sessions of plasma exchange and alternate-day haemodialysis followed by oral glucocorticoids and intravenous cyclophosphamide. To the best of our knowledge, this is the first case of catastrophic presentation of pSS with a favourable outcome.
PubMed: 38282934
DOI: 10.31138/mjr.040923.acs -
Pflugers Archiv : European Journal of... Apr 2024Metabolic acidosis is a frequent complication in non-transplant chronic kidney disease (CKD) and after kidney transplantation. It occurs when net endogenous acid... (Review)
Review
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. Notably, experimental and clinical studies over the past decades have provided evidence that metabolic acidosis may not only be a consequence of CKD but also a driver of disease. In metabolic acidosis, activation of hormonal systems and the complement system resulting in fibrosis have been described. Further studies of changes in renal metabolism will likely contribute to a deeper understanding of the pathophysiology of metabolic acidosis in CKD. While alkali supplementation in case of reduced serum bicarbonate < 22 mmol/l has been endorsed by CKD guidelines for many years to slow renal functional decline, among other considerations, beneficial effects and thresholds for treatment have lately been under intense debate. This review article discusses this topic in light of the most recent results of trials assessing the efficacy of dietary and pharmacological interventions in CKD and kidney transplant patients.
Topics: Humans; Renal Insufficiency, Chronic; Acidosis; Kidney; Acidosis, Renal Tubular; Diet
PubMed: 38279993
DOI: 10.1007/s00424-024-02912-5 -
Biochemical and Biophysical Research... Mar 2024V-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...
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. We employed morpholino oligonucleotide-mediated knockdown and CRISPR/Cas9 gene editing to generate Atp6v1ba-deficient (atp6v1ba) zebrafish as an ortholog model for ATP6V1B1. The atp6v1ba zebrafish exhibited systemic acidosis and significantly smaller otoliths compared to wild-type siblings. Moreover, deficiency in Atp6v1ba led to degeneration of inner ear hair cells, with ultrastructural changes indicative of autophagy. Our findings indicate a critical role of ATP6V1B1 in regulating lysosomal pH and autophagy in hair cells, and the results provide insights into the pathophysiology of sensorineural hearing loss in dRTA. Furthermore, this study demonstrates that the atp6v1ba zebrafish model is a valuable tool for further investigation into disease mechanisms and potential therapies for acidosis-related hearing impairment.
Topics: Animals; Humans; Zebrafish; Vacuolar Proton-Translocating ATPases; Hearing Loss, Sensorineural; Mutation; Acidosis, Renal Tubular; Acidosis; Hair Cells, Auditory; Hydrogen-Ion Concentration; Hair; Adenosine Triphosphate; Organometallic Compounds
PubMed: 38277730
DOI: 10.1016/j.bbrc.2024.149551 -
Renal Failure Dec 2024Renal involvement of primary biliary cholangitis (PBC) usually presents as distal renal tubular acidosis. Proximal tubular (PT) dysfunctions in PBC were rarely reported...
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 (57.8 ± 5.2 years) females (81.8%). Most of them were asymptomatic PBC (7, 63.6%) with a high prevalence of elevated serum immunoglobulin M (IgM, 81.8%) and G (IgG, 54.5%) levels. In the kidney, they had a mean estimated glomerular filtration rate (eGFR) level of 46.54 ± 23.03 ml/min/1.73m, and 81.8% of them had eGFR below 60 ml/min/1.73m. They showed different degrees of PT dysfunctions, including hyperuricosuria, hypouricemia, normoglycemic glycosuria, generalized aminoaciduria, hyperphosphaturia, and hypophosphatemia. Their kidney pathology showed tubulointerstitial nephritis with lymphoplasmacytic infiltrates, brush border defects, and proximal tubulitis. After glucocorticoids treatment, the PT dysfunctions manifesting as hypophosphatemia, hypouricemia, and renal glycosuria all recovered, and the eGFR levels were improved from 43.24 ± 19.60 ml/min/1.73m to 55.02 ± 21.14 ml/min/1.73m ( = 0.028), accompanied by significant improvements of serum IgM levels (from 5.97 ± 4.55 g/L to 2.09 ± 1.48 g/L, = 0.019).
CONCLUSIONS
The PT dysfunctions were rare in PBC patients, and glucocorticoids treatment could benefit the improvements of eGFR and tubular functions.
Topics: Middle Aged; Female; Humans; Retrospective Studies; Liver Cirrhosis, Biliary; Nephritis, Interstitial; Immunoglobulin M; Hypophosphatemia
PubMed: 38275162
DOI: 10.1080/0886022X.2024.2302409 -
Systemic lupus erythematosus complicated with Fanconi syndrome: a case report and literature review.Frontiers in Pediatrics 2023Systemic lupus erythematosus is an autoimmune disease with diverse clinical manifestations. The symptoms of SLE in children are more atypical than adults. Childhood SLE...
BACKGROUND
Systemic lupus erythematosus is an autoimmune disease with diverse clinical manifestations. The symptoms of SLE in children are more atypical than adults. Childhood SLE complicated with Fanconi syndrome is extremely rare and even more difficult to diagnose.
CASE PRESENTATION
This article reports a preschool boy with SLE who presented with renal tubular acidosis, accompanied by weakness in both lower limbs, delayed growth, and malnutrition. It was later found that the patient had the complication of Fanconi syndrome with renal tubular acidosis. Ultimately, renal biopsy confirmed lupus nephritis. The patient was treated with corticosteroid combined with mycophenolate mofetil, hydroxychloroquine, and belimumab. The symptoms of the child were relieved.
CONCLUSION
Here we report an extremely rare case of childhood SLE complicated with Fanconi syndrome. There has been no similar clinical report. It is necessary to be alert to the possibility of atypical SLE in children to avoid missed diagnosis and misdiagnosis.
PubMed: 38250590
DOI: 10.3389/fped.2023.1230366 -
Cureus Dec 2023Renal 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...
A Case Report of Paralysis and Respiratory Difficulty in a Patient With a Recent History of Complicated Pregnancy - An Uncommon Expression of Distal Renal Tubular Acidosis.
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. There are only a few cases of RTA-1 reported where the diagnosis was made during the pregnancy. By reporting this case of RTA-1 with rare initial clinical presentation and a recent complicated pregnancy, we propose that further research studies should be carried out in this area to explore a possible statistically significant association between pregnancy (and its complications) and RTA-1 exacerbation.
PubMed: 38226082
DOI: 10.7759/cureus.50630 -
Cureus Dec 2023Toluene 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....
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. Urinary hippuric acid and urinary liver-type fatty acid-binding protein (L-FABP) were measured, and a diagnosis of renal tubular acidosis (RTA) due to toluene toxicity was made. Urinary L-FABP levels decreased as the condition improved. Urinary L-FABP is a practical and rapid diagnostic and follow-up tool for toluene-induced RTA, and it is helpful to measure it in addition to conventional methods.
PubMed: 38222123
DOI: 10.7759/cureus.50438