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The American Journal of Case Reports Jul 2023BACKGROUND Severe hypokalemia, which often causes life-threatening malignant arrhythmias, is usually first diagnosed in the Emergency Department (ED). It is important to...
BACKGROUND Severe hypokalemia, which often causes life-threatening malignant arrhythmias, is usually first diagnosed in the Emergency Department (ED). It is important to note that hypokalemia is often closely and complexly related to renal tubular acidosis (RTA) associated with autoimmune diseases such as Sjögren's syndrome (SS), especially in females with acute myopathy or acute liver injury (ALI). Severe hypokalemia can directly cause muscle injury, which can lead to hyper-creatine kinaseemia (HCK) and ALI, while SS can also directly cause hypokalemia, HCK, and even ALI and renal tubular/interstitial injury. Therefore, by reporting a rare case of SS-associated RTA (SS-RTA), we systematically reviewed the relationship between SS-RTA and severe hypokalemia, which may be beneficial to increase attention on this topic. CASE REPORT A 35-year-old female patient who presented to the ED primarily for limb weakness symptoms was initially diagnosed with severe hypokalemia, acute myopathy, and ALI. She was eventually diagnosed with primary SS (pSS) and SS-RTA, although she did not present with the typical dry mouth, dry eyes, and other clinical manifestations of SS. CONCLUSIONS Severe hypokalemia is a serious life-threatening emergency, and although the differential diagnosis is very broad, we should be aware of RTA associated with autoimmune diseases such as SS in female patients, especially when combined with clinical manifestations such as acute myopathy and ALI that cannot be explained by other causes. Simultaneously, we hope to be able to guide emergency physicians encountering similar patients to complete the diagnostic and therapeutic process.
Topics: Humans; Female; Adult; Acidosis, Renal Tubular; Sjogren's Syndrome; Hypokalemia; Muscular Diseases; Autoimmune Diseases; Creatine
PubMed: 37481699
DOI: 10.12659/AJCR.940268 -
Children (Basel, Switzerland) Dec 2021Deferasirox is a first-line therapy for iron overload that can sometimes cause kidney damage. To better define the pattern of tubular damage, a systematic literature... (Review)
Review
Deferasirox is a first-line therapy for iron overload that can sometimes cause kidney damage. To better define the pattern of tubular damage, a systematic literature review was conducted on the United States National Library of Medicine, Excerpta Medica, and Web of Science databases. Twenty-three reports describing 57 individual cases could be included. The majority ( = 35) of the 57 patients were ≤18 years of age and affected by thalassemia ( = 46). Abnormal urinary findings were noted in 54, electrolyte or acid-base abnormalities in 46, and acute kidney injury in 9 patients. Latent tubular damage was diagnosed in 11 (19%), overt kidney tubular damage in 37 (65%), and an acute kidney injury in the remaining nine (16%) patients. Out of the 117 acid-base and electrolyte disorders reported in 48 patients, normal-gap metabolic acidosis and hypophosphatemia were the most frequent. Further abnormalities were, in decreasing order of frequency, hypokalemia, hypouricemia, hypocalcemia, and hyponatremia. Out of the 81 abnormal urinary findings, renal glucosuria was the most frequent, followed by tubular proteinuria, total proteinuria, and aminoaciduria. In conclusion, a proximal tubulopathy pattern may be observed on treatment with deferasirox. Since deferasirox-associated kidney damage is dose-dependent, physicians should prescribe the lowest efficacious dose.
PubMed: 34943300
DOI: 10.3390/children8121104 -
Journal of Pediatric Endocrinology &... Dec 2021Vitamin D dependent rickets type 1 (VDDR1) is a rare disease due to pathogenic variants in 1- hydroxylase gene. We describe our experience with systematic review of...
BACKGROUND
Vitamin D dependent rickets type 1 (VDDR1) is a rare disease due to pathogenic variants in 1- hydroxylase gene. We describe our experience with systematic review of world literature to describe phenotype and genotype.
METHODS
Seven patients from six unrelated families with genetically proven VDDR1 from our cohort and 165 probands from systematic review were analyzed retrospectively. The clinical features, biochemistry, genetics, management, and long-term outcome were retrieved.
RESULTS
In our cohort, the median age at presentation and diagnosis was 11(4-18) and 40(30-240) months. The delayed diagnoses were due to misdiagnoses as renal tubular acidosis and hypophosphatemic rickets. Four had hypocalcemic seizures in infancy whereas all had rickets by 2 years. All patients had biochemical response to calcitriol, however two patients diagnosed post-puberty had persistent deformity. Genetic analysis revealed two novel (p.Met260Arg, p.Arg453Leu) and a recurring variant (p.Phe443Profs*24). Systematic review showed that seizures as most common presentation in infancy, whereas delayed motor milestones and deformities after infancy. Diagnosis was delayed in 27 patients. Patients with unsatisfactory response despite compliance were >12 years at treatment initiation. Inappropriately normal 1,25(OH)2D may be present, however suppressed ratio of 1,25(OH)2 D/25(OH)D may provide a clue to diagnosis. Various region specific and hot-spot recurrent variants are described. Patients with truncating variants had higher daily calcitriol requirement and greatly suppressed ratio of 1,25(OH)2D/25(OH)D.
CONCLUSION
Delayed diagnosis may lead to permanent short stature and deformities. Truncating variants tend to have severe disease as compared to non-truncating variants. Diagnostic accuracy of 1,25(OH)2 D/25(OH)D ratio needs further validation.
Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Familial Hypophosphatemic Rickets; Female; Follow-Up Studies; Genotype; Humans; Infant; Male; Phenotype; Prognosis; Retrospective Studies; Vitamin D; Young Adult
PubMed: 34492747
DOI: 10.1515/jpem-2021-0403 -
Cureus May 2021Renal and hepatic functions are often mingled through both the existence of associated primary organ diseases and hemodynamic co-relationship. The primary objective of... (Review)
Review
Renal and hepatic functions are often mingled through both the existence of associated primary organ diseases and hemodynamic co-relationship. The primary objective of this study was to sum up the relationship between autoimmune hepatitis (AIH) on renal tubular acidosis (RTA) and the stages of the disease. A systematic review was performed for 24 trials. A total of 3687 patients were included. The incidence of RTA occurring and short-term mortality reduction was seen in two groups; for an overall effect: Z = 2.85 (P = 0.004) a total 95% CI of 0.53 [0.34, 0.82]. Only one patient with alcoholic liver cirrhosis was found to have an incomplete type of RTA. Test for overall effect: Z = 2.28 (P = 0.02) 95% CI of 2.83 [1.16, 6.95]. A reduction in fatal infections with dual therapy of corticosteroid plus N-acetylcysteine (NAC) test for overall effect: Z = 3.07 (P = 0.002) with 95% CI of 0.45 [0.27, 0.75]. Autoimmune diseases are the most frequent underlying cause of secondary RTA in adults. The primary renal disease must be actively excluded in all patients with hepatic failure by aggressive clinical and laboratory evaluations.
PubMed: 34079685
DOI: 10.7759/cureus.15287 -
Antibiotics (Basel, Switzerland) Feb 2021Aminoglycoside or colistin therapy may alter the renal tubular function without decreasing the glomerular filtration rate. This association has never been extensively... (Review)
Review
Aminoglycoside or colistin therapy may alter the renal tubular function without decreasing the glomerular filtration rate. This association has never been extensively investigated. We conducted a systematic review of the literature following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations. Databases searched included United States National Library of Medicine, Excerpta Medica, and Web of Science. For the final analysis, we evaluated 46 reports, published after 1960, describing 82 cases. A total of 286 electrolyte and acid-base disorders were reported. Hypomagnesemia, hypokalemia, and hypocalcemia were reported in more than three quarter of cases. Further disorders were, in decreasing order of frequency, metabolic alkalosis, hyponatremia, hypophosphatemia, hypouricemia, hypernatremia, and metabolic acidosis. Six electrolyte and acid-base disorders were reported in seven cases, five in 12 cases, four in 16 cases, three in 31 cases, two in 11 cases, and one in five cases. Laboratory features consistent with a loop of Henle/distal tubular dysfunction were noted in 56 (68%), with a proximal tubular dysfunction in three (3.7%), and with a mixed dysfunction in five (6.1%) cases. The laboratory abnormality was unclassified in the remaining 18 (22%) cases. Treatment with aminoglycosides or colistin may trigger a proximal tubular or, more frequently, a loop of Henle/distal tubular dysfunction.
PubMed: 33535401
DOI: 10.3390/antibiotics10020140 -
Clinical Case Reports Feb 2020Immune profile assessment-particularly for SLE-and subsequent specific therapy are beneficial in patients with persisting unexplained hyperkalemic or hypokalemic...
Immune profile assessment-particularly for SLE-and subsequent specific therapy are beneficial in patients with persisting unexplained hyperkalemic or hypokalemic paralysis, especially in case of isolated RTA.
PubMed: 32128183
DOI: 10.1002/ccr3.2623 -
Journal of Clinical Neuroscience :... Dec 2019Hypokalemic periodic paralysis secondary to distal renal tubular acidosis presenting with prominent bulbar symptoms is extremely rare. The exact pathophysiology by which...
Hypokalemic periodic paralysis secondary to distal renal tubular acidosis presenting with prominent bulbar symptoms is extremely rare. The exact pathophysiology by which hypokalemia causes weakness is yet to be elucidated though muscle and nerve membrane hyperpolarization have been hypothesized. The pathophysiology of bulbar involvement in this condition is even more unclear. We report a case presenting as acute flaccid quadriplegia with prominent bulbar symptoms that reversed once potassium levels returned to normal. Serial nerve conduction studies were performed at various potassium levels revealing electrophysiologic abnormalities that corrected with potassium repletion. A systematic review of the literature was also conducted focusing on bulbar symptoms and electrophysiologic findings in hypokalemic periodic paralysis. Nerve conduction abnormalities in this condition are seldom documented, but reports have shown reduced amplitudes of compound motor action potentials and abnormal F-waves during acute attacks of hypokalemic paralysis.
Topics: Acidosis, Renal Tubular; Bulbar Palsy, Progressive; Female; Humans; Hypokalemic Periodic Paralysis; Male; Quadriplegia
PubMed: 31439490
DOI: 10.1016/j.jocn.2019.08.063 -
Pediatric Nephrology (Berlin, Germany) Mar 2018Hyperammonemia usually results from an inborn error of metabolism or from an advanced liver disease. Individual case reports suggest that both distal renal tubular...
BACKGROUND
Hyperammonemia usually results from an inborn error of metabolism or from an advanced liver disease. Individual case reports suggest that both distal renal tubular acidosis and urinary tract infection may also result in hyperammonemia.
METHODS
A systematic review of the literature on hyperammonemia secondary to distal renal tubular acidosis and urinary tract infection was conducted.
RESULTS
We identified 39 reports on distal renal tubular acidosis or urinary tract infections in association with hyperammonemia published between 1980 and 2017. Hyperammonemia was detected in 13 children with distal renal tubular acidosis and in one adult patient with distal renal tubular acidosis secondary to primary hyperparathyroidism. In these patients a negative relationship was observed between circulating ammonia and bicarbonate levels (P < 0.05). In 31 patients (19 children, 12 adults), an acute urinary tract infection was complicated by acute hyperammonemia and symptoms and signs of acute neuronal dysfunction, such as an altered level of consciousness, convulsions and asterixis, often associated with signs of brain edema, such as anorexia and vomiting. Urea-splitting bacteria were isolated in 28 of the 31 cases. The urinary tract was anatomically or functionally abnormal in 30 of these patients.
CONCLUSIONS
This study reveals that both altered distal renal tubular acidification and urinary tract infection may be associated with relevant hyperammonemia in both children and adults.
Topics: Acidosis, Renal Tubular; Female; Humans; Hyperammonemia; Male; Urinary Tract; Urinary Tract Infections
PubMed: 29134448
DOI: 10.1007/s00467-017-3829-7 -
Journal of Nephrology Dec 2016Recently published guidelines on the medical management of renal stone disease did not address relevant topics in the field of idiopathic calcium nephrolithiasis, which... (Review)
Review
BACKGROUND
Recently published guidelines on the medical management of renal stone disease did not address relevant topics in the field of idiopathic calcium nephrolithiasis, which are important also for clinical research.
DESIGN
A steering committee identified 27 questions, which were proposed to a faculty of 44 experts in nephrolithiasis and allied fields. A systematic review of the literature was conducted and 5216 potentially relevant articles were selected; from these, 407 articles were deemed to provide useful scientific information. The Faculty, divided into working groups, analysed the relevant literature. Preliminary statements developed by each group were exhaustively discussed in plenary sessions and approved.
RESULTS
Statements were developed to inform clinicians on the identification of secondary forms of calcium nephrolithiasis and systemic complications; on the definition of idiopathic calcium nephrolithiasis; on the use of urinary tests of crystallization and of surgical observations during stone treatment in the management of these patients; on the identification of patients warranting preventive measures; on the role of fluid and nutritional measures and of drugs to prevent recurrent episodes of stones; and finally, on the cooperation between the urologist and nephrologist in the renal stone patients.
CONCLUSIONS
This document has addressed idiopathic calcium nephrolithiasis from the perspective of a disease that can associate with systemic disorders, emphasizing the interplay needed between urologists and nephrologists. It is complementary to the American Urological Association and European Association of Urology guidelines. Future areas for research are identified.
Topics: Biomarkers; Calcium; Consensus; Crystallization; Humans; Interdisciplinary Communication; Nephrolithiasis; Nephrologists; Patient Care Team; Predictive Value of Tests; Recurrence; Risk Factors; Secondary Prevention; Treatment Outcome; Urinalysis; Urologists
PubMed: 27456839
DOI: 10.1007/s40620-016-0329-y -
The Lancet. Diabetes & Endocrinology May 2016Growth monitoring of apparently healthy children aims at early detection of serious underlying disorders. However, existing growth-monitoring practices are mainly based... (Review)
Review
Growth monitoring of apparently healthy children aims at early detection of serious underlying disorders. However, existing growth-monitoring practices are mainly based on suboptimal methods, which can result in delayed diagnosis of severe diseases and inappropriate referrals. We did a systematic review to address two key and interconnected questions underlying growth monitoring: which conditions should be targeted, and how should abnormal growth be defined? We systematically searched for studies reporting algorithms for growth monitoring in children and studies comparing the performance of new WHO growth charts with that of other growth charts. Among 1556 identified citations, 69 met the inclusion criteria. Six target conditions have mainly been studied: Turner syndrome, coeliac disease, cystic fibrosis, growth hormone deficiency, renal tubular acidosis, and small for gestational age with no catch-up after 2 or 3 years. Seven algorithms to define abnormal growth have been proposed in the past 20 years, but their level of validation is low, and their overall sensitivities and specificities vary substantially; however, the Grote and Saari clinical decision rules seem the most promising. Two studies reported that WHO growth charts had poorer performance compared with other existing growth charts for early detection of target conditions. Available data suggest a large gap between the widespread implementation of growth monitoring and its level of evidence or the clinical implications of early detection of serious disorders in children. Further investigations are needed to standardise the practice of growth monitoring, with a consensus on a few priority target conditions and with internationally validated clinical decision rules to define abnormal growth, including the selection of appropriate growth charts.
Topics: Algorithms; Early Diagnosis; Growth Charts; Growth Disorders; Humans; Mass Screening
PubMed: 26777129
DOI: 10.1016/S2213-8587(15)00392-7