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Indian Journal of Endocrinology and... 2024We aimed to describe the clinical, biochemical and etiological profile of patients referred with a provisional diagnosis of rickets in tertiary care centres. In...
INTRODUCTION
We aimed to describe the clinical, biochemical and etiological profile of patients referred with a provisional diagnosis of rickets in tertiary care centres. In addition, we tried to propose a diagnostic algorithm for the evaluation of such patients.
METHODS
This was a retrospective cross-sectional study conducted in two tertiary care centres of West Bengal. Data of patients were retrieved between 2014 and 2021.
RESULTS
Out of 101 children, 22 had conditions simulating rickets. Renal tubular acidosis (RTA) was the most common (53.2%) etiology of rickets, followed by phosphopenic rickets (PR) (22.8%) and calcipenic rickets (CR) (17.7%). The prevalence of true nutritional rickets (NR) was only 8.9%. Children with RTA had a significantly higher prevalence of chronic ill health (69%) and polyuria (95.2%). Weight standard deviation score (SDS) and body mass index (BMI) SDS scores were significantly lower in the RTA group compared to others. Around 90.5% of children with RTA, and none in the other groups, had hypokalemia. Biochemically, hypophosphatemia and elevated alkaline phosphatase (ALP) were present in all patients with PR and CR. Compared to CR, median serum phosphate was significantly lower in the PR group. A significant difference in ALP values was noticed in patients with hypophosphatemia (815 ± 627 IU/L) compared to those without (279 ± 204 IU/L). Plasma parathyroid hormone (PTH) of 100 pg/ml seemed useful to differentiate CR from other forms.
CONCLUSION
NR is uncommon in tertiary care centres. Children with rickets should be approached systematically with the estimation of ALP, phosphorus, creatinine, calcium, PTH and 25-hydroxy vitamin D to reach an etiological diagnosis.
PubMed: 38911108
DOI: 10.4103/ijem.ijem_221_23 -
Nature Communications Jun 2024The renal epithelium is sensitive to changes in blood potassium (K). We identify the basolateral K channel, Kir4.2, as a mediator of the proximal tubule response to K...
The renal epithelium is sensitive to changes in blood potassium (K). We identify the basolateral K channel, Kir4.2, as a mediator of the proximal tubule response to K deficiency. Mice lacking Kir4.2 have a compensated baseline phenotype whereby they increase their distal transport burden to maintain homeostasis. Upon dietary K depletion, knockout animals decompensate as evidenced by increased urinary K excretion and development of a proximal renal tubular acidosis. Potassium wasting is not proximal in origin but is caused by higher ENaC activity and depends upon increased distal sodium delivery. Three-dimensional imaging reveals Kir4.2 knockouts fail to undergo proximal tubule expansion, while the distal convoluted tubule response is exaggerated. AKT signaling mediates the dietary K response, which is blunted in Kir4.2 knockouts. Lastly, we demonstrate in isolated tubules that AKT phosphorylation in response to low K depends upon mTORC2 activation by secondary changes in Cl transport. Data support a proximal role for cell Cl which, as it does along the distal nephron, responds to K changes to activate kinase signaling.
Topics: Animals; Proto-Oncogene Proteins c-akt; Potassium Channels, Inwardly Rectifying; TOR Serine-Threonine Kinases; Signal Transduction; Mice, Knockout; Potassium; Kidney Tubules, Proximal; Mice; Mechanistic Target of Rapamycin Complex 2; Phosphorylation; Male; Chlorides; Mice, Inbred C57BL
PubMed: 38886379
DOI: 10.1038/s41467-024-49562-w -
Cureus May 2024Autoimmune thyroid disease (AITD) encompasses a spectrum of conditions ranging from Graves' disease (GD) to Hashimoto's thyroiditis (HT). These conditions often coexist...
Autoimmune thyroid disease (AITD) encompasses a spectrum of conditions ranging from Graves' disease (GD) to Hashimoto's thyroiditis (HT). These conditions often coexist with other autoimmune diseases (AIDs). This case describes a young woman in her 20s who transitioned from GD to HT during her first pregnancy, while having another coexisting AID, Sjogren's syndrome (SS). AITD and SS are recognized as the most common polyautoimmune diseases, sharing many common pathophysiological characteristics such as the presence of lymphocytic infiltrates, similar expressions of the human leukocyte antigen molecules, and predisposing environmental factors. This case underscores the importance for physicians to be vigilant regarding the possibility of changing antibodies in AITD and the potential for concurrent AIDs in a single individual. It highlights the need for screening such patients for comprehensive management.
PubMed: 38826946
DOI: 10.7759/cureus.59446 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Feb 2024Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease that is prevalent in middle-aged and elderly women, characterized by dry mouth, dry eyes, fatigue, and... (Review)
Review
Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease that is prevalent in middle-aged and elderly women, characterized by dry mouth, dry eyes, fatigue, and joint pain. Nearly one-third pSS patients have been suffering with osteoporosis (OP), displaying symptoms of lumbago, back pain, and even fracture, all of which severely affect their life quality. Common risk factors for pSS and OP include gender and age, persistent state of inflammation, immune disorders, intestinal flora imbalance, vitamin D deficiency, dyslipidemia and sarcopenia. Meanwhile, the comorbidities of pSS, such as renal tubular acidosis, primary biliary cholangitis, autoimmune thyroid diseases, and drugs (glucocorticoids, methotrexate, and cyclophosphamide) are unique risk factors for pSS complicated with OP. Education, guidance of healthy lifestyle, and OP screening are recommended for bone management of pSS patients. Early detection and intervention are crucial for keeping bone health and life quality in pSS patients.
Topics: Humans; Sjogren's Syndrome; Osteoporosis; Risk Factors; Female; Comorbidity; Vitamin D Deficiency; Quality of Life
PubMed: 38755728
DOI: 10.11817/j.issn.1672-7347.2024.230295 -
Journal of Medical Case Reports May 2024Pregnancy imposes significant physiological changes, including alterations in electrolyte balance and renal function. This is especially important because certain...
BACKGROUND
Pregnancy 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 PRESENTATION
We 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.
CONCLUSION
This 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.
Topics: Humans; Female; Pregnancy; Sjogren's Syndrome; Adult; Hypokalemia; Pregnancy Complications; Quadriplegia; Leptospirosis; Acidosis, Renal Tubular; Acidosis, Respiratory
PubMed: 38702803
DOI: 10.1186/s13256-024-04563-7 -
Journal of Veterinary Internal Medicine May 2024This report describes the diagnosis and treatment of aldosterone resistance (AR) and acquired hyperkalemic type IV renal tubular acidosis (RTA) in 2 cats comparable to...
This report describes the diagnosis and treatment of aldosterone resistance (AR) and acquired hyperkalemic type IV renal tubular acidosis (RTA) in 2 cats comparable to acquired pseudohypoaldosteronism in people. One cat developed AR from chronic kidney disease after an acute kidney injury and was treated with furosemide per os, which resolved the hyperkalemic RTA. The second cat developed transient AR secondary to a bacterial urinary tract infection associated with urethral catheterization, and treatment with antibiotics resolved the hyperkalemic RTA.
PubMed: 38695414
DOI: 10.1111/jvim.17098 -
Canadian Journal of Physiology and... Jul 2024Kidney anion exchanger 1 (kAE1) is an isoform of the AE1 protein encoded by the gene. It is a basolateral membrane protein expressed by α-intercalated cells in the... (Review)
Review
Kidney anion exchanger 1 (kAE1) is an isoform of the AE1 protein encoded by the 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, 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.
Topics: Humans; Animals; Protein Processing, Post-Translational; Anion Exchange Protein 1, Erythrocyte; Mutation
PubMed: 38669699
DOI: 10.1139/cjpp-2023-0482 -
Clinical Kidney Journal Apr 2024Wilson'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... (Review)
Review
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.
PubMed: 38660122
DOI: 10.1093/ckj/sfae058 -
Indian Journal of Nephrology 2024
PubMed: 38645906
DOI: 10.4103/ijn.ijn_128_23