Distal Renal Tubular Acidosis Research Articles

Acquired Fanconi syndrome in mixed cryoglobulinemia patients: a single-center case series.

Cryoglobulinemia is a pathological condition characterized by the presence of cryoglobulins in the blood, with cryoglobulinemic glomerulonephritis being the most frequent form of renal involvement. Fanconi syndrome presents as a generalized dysfunction of the proximal tubule, characterized by the presence of polyuria, phosphaturia, glycosuria, proteinuria, proximal renal tubular acidosis, and osteomalacia. We aimed to present five cases co-occurring with Fanconi syndrome and cryoglobulinemia. We retrospectively summarized the cases of five patients with Fanconi syndrome and cryoglobulinemia at Peking Union Medical College Hospital from January 2012 to June 2022. The clinical features, diagnosis, treatment, and prognosis were systematically analyzed. All five patients exhibited typical features of Fanconi syndrome, and cryoglobulinemia was concurrently detected in all cases. These patients also exhibit positive anti-nuclear antibody spectrum and hyperglobulinemia, and IgM constitutes the predominant monoclonal component in cryoglobulins. In addition to supplemental treatment, timely immunosuppressive therapy may potentially benefit the long-term renal prognosis of patients with this condition. Our findings highlight the rare co-occurrence of Fanconi syndrome and cryoglobulinemia in clinical practice. Despite the lack of causal evidence, the coexistence of Fanconi syndrome and tubulointerstitial injury is also noteworthy in patients with cryoglobulinemia, underscoring the importance of thorough evaluation and tailored management in patients presenting with overlapping renal manifestations. Key Points • Patients with mixed cryoglobulinemia can clinically present with tubulointerstitial injury, specifically manifesting as Fanconi syndrome. • In addition to typical symptoms of Fanconi syndrome, these patients also exhibit positive anti-nuclear antibody spectrum and hyperglobulinemia, while IgM constitutes the monoclonal component in cryoglobulins. • Timely immunosuppressive therapy may improve long-term renal prognosis in these patients.

Unusual presentation of Sjogren’s syndrome during pregnancy: a case report

BackgroundPregnancy imposes significant physiological changes, including alterations in electrolyte balance and renal function. This is especially important because certain disorders might worsen and make people more susceptible to electrolyte abnormalities. One such condition is Sjogren's syndrome (SS), an autoimmune disease that can cause distal renal tubular acidosis (dRTA). This case report offers a unique perspective on the intricate physiological interplay during pregnancy, emphasizing the critical importance of recognizing and managing electrolyte abnormalities, particularly in the context of autoimmune disorders such as Sjogren’s syndrome.Case presentationWe report a case of a 31-year-old pregnant Indian woman at 24 weeks gestation presenting with fever, gastrointestinal symptoms, and progressive quadriparesis followed by altered sensorium. Severe hypokalaemia and respiratory acidosis necessitated immediate intubation and ventilatory support. Investigations revealed hypokalaemia, normal anion gap metabolic acidosis, and positive autoimmune markers for SS. Concurrently, she tested positive for IgM Leptospira. Management involved aggressive correction of electrolyte imbalances and addressing the underlying SS and leptospirosis.ConclusionThis case underscores that prompt recognition and management are paramount to prevent life-threatening complications in pregnant patients with autoimmune disease. This report sheds light on the unique challenge of managing hypokalaemic quadriparesis in the context of Sjogren’s syndrome during pregnancy.

A case report on Sjogren syndrome with autoimmune liver disorder

Background: Primary Sjogren’s syndrome (pSS) is a chronic systemic and autoimmune disorder characterized by inflammation and dysfunction of exocrine glands. Liver involvement was the first extraglandular manifestations to be reported in patients with pSS. Tubulointerstitial nephritis (TIN) is the main renal involvement associated with pSS and manifest as distal renal tubular acidosis (RTA), and others, of which RTA is the main clinical presentation. RTA has been reported in 4.3 to 9% of pSS patients. In this case, patient experiences RTA. Case Presentation: A 19 year old female patient was presented with complaints of abdominal pain, fatigue for 2 months and loose stools. She had history of autoimmune hepatitis and decompensated liver cirrhosis with portal hypertension (autoimmune), bilateral peroneal axonal neuropathy, grade II hepatic encephalopathy resolved and recurrent pustular lesion for past 2 years which rupture spontaneously and heals with scary. She also presented with recurrent hypokalemia which was corrected. No history of similar complaints among the family members. Conclusion: This case explains the autoimmune liver disorder with newly diagnosed primary sjogren’s syndrome associated with recurrent hypokalemia.

A Child with Distal (Type 1) Renal Tubular Acidosis Presenting with Progressive Gross Motor Developmental Regression, Medullary Nephrocalcinosis, and Acute Renal Failure - A Case Report

Background: Distal renal tubular acidosis (dRTA) is a condition characterized by the impaired ability to secrete hydrogen ions from the distal tubule. In pediatric patients, common clinical features of dRTA include excessive urine production (polyuria), frequent nighttime urination (nocturia), poor growth and weight gain (failure to thrive), difficulty with bowel movements (constipation), abnormal breathing, and the presence of kidney stones (nephrolithiasis). While urinary tract infections (UTIs) are frequently associated with dRTA, renal failure is uncommon and seldom reported in children. Case Presentation: A 10-year-old girl was referred for the evaluation due to a progressive loss of gross motor milestones over a period of 3 years. She also experienced an acute episode of paralysis and was found to have bilateral medullary nephrocalcinosis (right staghorn calculus) accompanied by moderate renal failure and a UTI. Her development in other areas was appropriate for her age. Importantly, there was a history suggestive of excessive urine production (polyuria), increased thirst (polydipsia), and frequent nighttime urination (nocturia). Physical examination revealed proximal myopathy, characterized by a waddling gait and a positive Gower’s sign, as well as diminished reflexes and muscle tone in the lower limbs. Laboratory tests indicated the presence of sepsis (total leukocyte count – 26,660, CRP-174.29) and elevated renal parameters (serum creatinine – 4.27) along with active urinary abnormalities. Urine culture and sensitivity testing showed significant growth of Escherichia coli (>100,000 CFU). A computed tomography scan of the kidneys, ureters, and bladder revealed a staghorn calculus on the right side, as well as bilateral medullary nephrocalcinosis and swollen kidneys. The patient was diagnosed with dRTA based on several factors, including hypokalemic hyperchloremic metabolic acidosis with a normal anion gap, high urine pH, borderline hypercalciuria, presence of medullary nephrocalcinosis, and after ruling out other potential differential diagnoses. Following treatment for the UTI and sepsis, as well as standard treatment for dRTA, the child exhibited symptomatic improvement. Her creatinine levels returned to 0.8 mg/dL, and the septic markers declined to normal levels. To further investigate the cause of the initial decline in renal function in addition to the UTI, a renal biopsy was performed. Conclusion: This case report emphasizes the significance of including medullary nephrocalcinosis and renal tubular acidosis in the list of potential diagnoses for patients presenting with progressive gross motor developmental regression, acute flaccid paralysis, and proximal myopathy. Timely identification of these conditions can help avoid unnecessary and expensive investigations, while also facilitating prompt clinical recovery in affected children. Early diagnosis plays a crucial role in guiding appropriate management strategies and improving patient outcomes.

Unraveling the Molecular Landscape of kAE1: A Narrative Review.

Kidney anion exchanger 1 (kAE1) is an isoform of the AE1 protein encoded by the SLC4A1 gene. It is a basolateral membrane protein expressed by α-intercalated cells in the connecting tubules and collecting duct of the kidney. Its main function is to exchange bicarbonate and chloride ions between the blood and urine to maintain blood pH at physiological threshold. The kAE1 protein undergoes multiple post-translational modifications such as phosphorylation and ubiquitination and interacts with many different proteins such as claudin-4 and carbonic anhydrase II. Mutations in the gene may lead to the development of distal renal tubular acidosis (dRTA), characterized by the failure to acidify the urine, which may result in nephrocalcinosis and in more severe cases, renal failure. In this review, we discuss the structure and function of kAE1, its post-translational modifications, and protein-protein interactions. Finally we discuss insights gained from the study of kAE1 mutations in humans and in mice.

A Curious Case of Quadriplegia

Background: Hypokalemic periodic paralysis (HPP) is an uncommon disorder of the muscle marked by intermittent weakness of muscles , which, in severe cases, can progress to respiratory failure. It is frequently associated with renal tubular acidosis, a condition that can manifest in connection with systemic disorders like Sjögren’s syndrome and thyroid disorders.  Case Presentation: A 58-years-old woman presented to the hospital with weakness in all extremities. The patient exhibited motor strength of 0/5 in all limbs. The ECG revealed sinus bradycardia and hypokalemia changes. Laboratory tests showed hypokalemia, metabolic acidosis with a high anion gap, urine pH of more than 5.5, FT4 levels at 6.9 ng/dL, TSH levels at 25.03 IU/mL, Anti-TPO antibodies positive, and a positive SS-A (Ro), Ro-52, SS-B (La) in the ANA profile, indicative of Sjogren's syndrome. Patient has previously experienced similar issues and also has a confirmed diagnosis of hypothyroidism.  Discussion: The patient received diagnoses of hypokalemic periodic paralysis(HPP), Sjögren's syndrome, and renal tubular acidosis due to findings of hypokalemia, metabolic acidosis, elevated urine pH, and a positive ANA profile.  Conclusion: Distal renal tubular acidosis secondary to Sjögren’s syndrome can rarely present as HPP.

Distal renal tubular acidosis as a rare complication of vesicoureteral reflux in children: a case report and literature review.

Distal renal tubular acidosis (dRTA) is a clinical picture of hyperchloremic hypokalemic metabolic acidosis with a normal anion gap. It can be caused by a variety of conditions including obstructive uropathy such as vesicoureteral reflux (VUR). We report a rare case of dRTA secondary to VUR in a 4-year-old girl with a history of meningomyelocele, neurogenic bladder and recurrent urinary tract infections. She was admitted to the hospital with complaints of polydipsia, polyuria, and inability to gain weight for the last 1year. She was on prophylactic antibiotic treatment with clean intermittent catheterization and anticholinergic drug. She had a history of subureteral injection of various agents and botulin toxin injection into the bladder. Her voiding cystourethrogram revealed grade 5 VUR in the left kidney, tortuosity in the left ureter, and the bladder had a dome-like appearance and was trabeculated. When all laboratory values of the patient since birth were examined, it was observed that urine pH was high despite hypokalemic hyperchloremic metabolic acidosis for the last year; these abnormalities became more severe in the last few months. In conclusion, the development of hypokalemia and nephrolithiasis/nephrocalcinosis along with metabolic acidosis in a patient diagnosed with VUR should be considered as an indicator of impaired tubular functions. Also, the possibility of an underlying VUR in the presence of recurrent urinary tract infection in a patient diagnosed with dRTA should not be ignored.

Review of childhood genetic nephrolithiasis and nephrocalcinosis.

Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC. Most genetic diseases associated with NL and NC are secondary to hypercalciuria, including those secondary to hypercalcemia, renal phosphate wasting, renal magnesium wasting, distal renal tubular acidosis (RTA), proximal tubulopathies, mixed or variable tubulopathies, Bartter syndrome, hyperaldosteronism and pseudohyperaldosteronism, and hyperparathyroidism and hypoparathyroidism. The remaining minority of genetic diseases associated with NL and NC are secondary to hyperoxaluria, cystinuria, hyperuricosuria, xanthinuria, other metabolic disorders, and multifactorial etiologies. Genome-wide association studies (GWAS) in adults have identified multiple polygenic traits associated with NL and NC, often involving genes that are involved in calcium, phosphorus, magnesium, and vitamin D homeostasis. Compared to adults, there is a relative paucity of studies in children with NL and NC. This review aims to focus on the genetic component of NL and NC in children.

Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets

Hypophosphatemic rickets, which is often hereditary, is still under- or misdiagnosed in both children and adults, denying these individuals access to optimal management and genetic counseling. There have been recent calls to compile real-world data and share best practice on these rare conditions to guide clinical decision-making. Here we present eight clinical vignettes of patients with hypophosphatemic rickets encountered in our tertiary pediatric endocrinology practice. We describe the clinical features, genetics, and management of four cases of X-linked hypophosphatemia (PHEX mutations), one each of autosomal recessive hypophosphatemic rickets (DMP1 mutation) and autosomal recessive vitamin D-dependent rickets type 1A (CYP27B1 mutation), and two cases of distal renal tubular acidosis with FOXI1 mutation-associated hypophosphatemic rickets. Our cases prompt consideration of the (i) frequent misdiagnosis of hypophosphatemic rickets in clinical practice and the importance of comprehensive genetic testing; (ii) variable expressivity of the causative mutations; and (iii) a lack of responsiveness and/or compliance to conventional therapy and the value of burosumab in modern management, provided access is equitable. These cases highlight common real-world themes and challenges to managing patients presenting with these diverse conditions, especially the burden of disease hidden by misdiagnosis. In sharing these cases, we hope to raise awareness of these conditions, promote best practice in genetic diagnosis and management, and further advocate for reimbursement equity for the best available therapies.

Sustained-release preparation for the treatment of distal renal tubular acidosis

Sustained-release preparation for the treatment of distal renal tubular acidosis

Kidney involvement in Wilson's disease: a review of the literature.

Wilson's disease (WD) is a rare inherited disease due to the mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and its pathological accumulation in various organs such as the liver, the nervous system, or the kidneys. Whereas liver failure and neuropsychiatric disorders are the most common features, less is known about the renal complications. We conducted a review of the literature to define the characteristics and pathophysiology of kidney involvement during WD. This review shed light on strong evidence for direct copper toxicity to renal tubular cells. Excessive tubular copper accumulation might present with various degrees of tubular dysfunction, ranging from mild hydroelectrolytic and acid-base disorders to complete Fanconi syndrome. Proximal and distal renal tubular acidosis also favors development of nephrolithiasis, nephrocalcinosis, and bone metabolism abnormalities. Indirect complications might involve renal hypoperfusion as occurs in hepatorenal or cardiorenal syndrome, but also tubular casts' formation during acute hemolysis, rhabdomyolysis, or bile cast nephropathy. Acute kidney failure is not uncommon in severe WD patients, and independently increases mortality. Finally, specific and long-term therapy by D-penicillamin, one of the most efficient drugs in WD, can cause glomerular injuries, such as membranous nephropathy, minimal-change disease, and, rarely, severe glomerulonephritis. Altogether, our study supports the need for interdisciplinary evaluation of WD patients involving nephrologists, with regular monitoring of tubular and glomerular functions, to provide adequate prevention of renal and bone involvement.

A case of primary Sjögren syndrome masquerading as post-COVID Bickerstaff encephalitis

We present a case of acute external ophthalmoplegia, hypersomnolence, and ataxia occurring 5 days after an episode of SARS-CoV-2 upper respiratory tract infection. The patient’s serum returned positive for anti-GD1a antibodies. Guided by precedent cases, she was empirically started on a course of intravenous (IV) immunoglobulin for possible para-infectious Bickerstaff brainstem encephalitis (BBE). However, she failed to respond and subsequently developed autoimmune hemolytic anemia as well as renal tubular acidosis (type 1). Corroborative history from her family elucidated constitutional and sicca symptoms and she was eventually diagnosed with primary Sjögren syndrome (pSS) complicated by brainstem and cerebellar involvement. She was treated with IV cyclophosphamide and rituximab, after which her neurological deficits completely resolved at two months.

Palbociclib-associated nephrotoxicity in a patient with breast cancer

A patient with advanced breast cancer developed acute kidney injury and generalized renal tubular dysfunction manifested as Fanconi syndrome and distal renal tubular acidosis after treatment with palbociclib, a cyclin-dependent kinases 4 and 6 (CDK4/6) inhibitor. A kidney biopsy showed acute tubular injury characterized by dilated tubular lumens, flattened epithelium, and loss of brush borders, with no significant interstitial fibrosis. This case illustrates the importance of close and long-term follow-up of kidney function and electrolyte levels after the initiation of a CDK4/6 inhibitor.

Hypokalaemic paralysis due to underlying distal renal tubular acidosis as the first presentation of primary Sjogren’s syndrome: a case report

Sjögren syndrome is a systemic autoimmune disease that primarily affects the exocrine glands. A 36-year-old woman presented with sudden onset of bilateral lower limb weakness. She was noted to have hypokalaemia with a normal anion gap metabolic acidosis. Subsequent investigations revealed high ESR, positive ANA, absent dsDNA, normal C3, C4, positive anti-Ro and negative anti-La. Labial biopsy revealed a lymphocytic infiltrate and renal biopsy revealed tubulointerstitial nephritis. Sjogren’s syndrome rarely (less than 5%) presents for the first time as renal manifestations such as hypokalaemia related paralysis as a result of type I – distal renal tubular acidosis due to the underlying tubulointerstitial nephritis.

Rare renal proximal tubular dysfunctions in primary biliary cholangitis

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/1.73m2, and 81.8% of them had eGFR below 60 ml/min/1.73m2. 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/1.73m2 to 55.02 ± 21.14 ml/min/1.73m2 (p = 0.028), accompanied by significant improvements of serum IgM levels (from 5.97 ± 4.55 g/L to 2.09 ± 1.48 g/L, p = 0.019). Conclusions The PT dysfunctions were rare in PBC patients, and glucocorticoids treatment could benefit the improvements of eGFR and tubular functions.

A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish

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.

Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite.

This study was designed to determine the mineral composition of calculi in nephrocalcinosis with nephrolithiasis, diagnose the underlying disease, and monitor the course of renal function in patients with nephrocalcinosis-nephrolithiasis. Renal calculi extruded in a series of 8 patients with nephrocalcinosis were analysed using Fourier transmission infrared spectrometry. In 4 patients, next-generation sequencing using a nephrocalcinosis-nephrolithiasis panel was performed to determine the nature of the underlying disease. In addition, longitudinal analysis of renal function was performed in all patients. Seven patients revealed carbonate apatite as the sole constituent of renal calculi. One patient showed a mixed composition of dicalcium phosphate dihydrate/carbonate apatite at first analysis yet in subsequent episodes also had calculi composed of pure carbonate apatite. Further molecular analysis displayed distal renal tubular acidosis in 2 of 4 patients who consented to sequencing. No known genetic defect could be found in the other two cases. In line with prior reports, decline of renal function was dependent on underlying disease. Distal renal tubular acidosis revealed a progressive course of renal failure, whereas other causes showed stable renal function in long term analysis. Nephrocalcinosis with nephrolithiasis is a rare condition with heterogeneous aetiology. Yet mineral composition of renal calculi predominantly consisted of pure carbonate apatite. This uniform finding is similar to subcutaneous calcifications of various origins and might propose a general principle of tissue calcification. Progressive decline of renal function was found in distal renal tubular acidosis, whereas other conditions remained stable over time.

Proximal Renal Tubular Acidosis Complicated by Severe Hypocalcemia Caused by Malnutrition and Inappropriate Long-term Use of Zoledronate: A Case Report and Review of the Literature.

An 80-year-old man presented with electrolyte abnormalities, particularly hypocalcemia (3.6 mg/dL). He was diagnosed with bone and lymph node metastases from prostate cancer seven years earlier and continuously received goserelin, bicalutamide, and zoledronate. He later developed gradually worsening hypocalcemia, hypokalemia, hypophosphatemia, hypouricemia, renal dysfunction, and weight loss. Urinary potassium and phosphate loss, renal glucosuria, metabolic acidosis, and a low urine pH (5.0) were observed. Given the acquired onset and clinical course, we diagnosed the patient with zoledronate-induced proximal renal tubular acidosis. In the present case, severe hypocalcemia may have been caused by malnutrition and inappropriate long-term use of zoledronate.

Hypokalemic Paralysis Due to Distal Renal Tubular Acidosis, Case Report

Distal renal tubular acidosis (dRTA) is a metabolic disease characterized by hypokalemia, hyperchloremic metabolic acidosis and urine pH above 5.5. These findings may be accompanied by hypercalciuria, nephrocalcinosis, nephrolithiasis, jaundice, osteomalacia or rickets in children. Although hypokalemia is frequently seen as a laboratory finding in dRTA, weakness, which is the clinical finding of this deficiency, is rare. A 33-year-old female patient was brought to the emergency department (ED) with complaints of weakness, loss of strength in the extremities, and difficulty in breathing. Laboratory analyzes of the patient revealed metabolic acidosis and hypokalemia. Urea and creatinine values were normal. The patient was admitted to the internal medicine department with a preliminary diagnosis of dRTA and hypokalemic paralysis. Initially, parenteral infusion of KCl and NaHCO3 was administered in the treatment. In the follow-up of the patient, it was observed that hypokalemia and metabolic acidosis improved from the 3rd day and clinical findings improved within 36 hours following the replacement therapy. dRTA, which is rare in adults, is among the secondary causes of hypokalemic paralysis. dRTA should be considered among the differential diagnoses in the presence of hypokalemia and metabolic acidosis in patients presenting with bilateral weakness.

Renal calcification in children with renal tubular acidosis: What a paediatrician ‎should ‎know‎.

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. However, there are limitations to the existing literature, including a small number of studies, heterogeneity in methodologies, and potential publication bias. Longitudinal data and control groups are also lacking, which limits our understanding of long-term outcomes and optimal management strategies for children with RTA and renal calcification. Pediatricians play a crucial role in the early diagnosis and management of RTA to mitigate the risk of renal calcification and associated complications. In addition, alkaline therapy remains a cornerstone in the treatment of RTA, aimed at correcting the acid-base imbalance and reducing the formation of kidney stones. Therefore, early diagnosis and appropriate therapeutic interventions are paramount in preventing and managing renal calcification to preserve renal function and improve long-term outcomes for affected children. Further research with larger sample sizes and rigorous methodologies is needed to optimize the clinical approach to renal calcification in the context of RTA in the pediatric population.