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"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



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MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
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Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

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Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011
Anuradha

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.


Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020

Important Notice

Case report
Year : 2022 | Month : November | Volume : 16 | Issue : 11 | Page : OD01 - OD03 Full Version

Hypokalaemia in Type-4 Renal Tubular Acidosis: A Rare Presentation


Published: November 1, 2022 | DOI: https://doi.org/10.7860/JCDR/2022/56154.16979
Shanjitha Hussain, T Saravanan, S Nirmala

1. Postgraduate Student, Department of Internal Medicine, PSG Institute of Medical Science and Research, Coimbatore, Tamil Nadu, India. 2. Professor and Head, Department of Internal Medicine, PSG Institute of Medical Science and Research, Coimbatore, Tamil Nadu, India. 3. Professor, Department of Internal Medicine, PSG Institute of Medical Science and Research, Coimbatore, Tamil Nadu, India.

Correspondence Address :
Dr. S Nirmala,
F5, PSG Doctors Quarters, PSG Hospital Campus, Peelamedu-641004, Coimbatore, Tamil Nadu, India.
E-mail: nimisekar23@gmail.com

Abstract

Proximal/Type-2 Renal Tubular Acidosis (RTA) occurs due to impairment of bicarbonate absorption in the proximal tubule and is mainly characterised by hypokalaemia and metabolic acidosis. There are various causes of proximal RTA like genetic, cystinosis, Wilson’s disease, drugs and toxins, vitamin D deficiency, hyperparathyroidism, amyloidosis. Vitamin D deficiency is one of the uncommon causes and is more common in elderly. Hereby, authors present a case report of a diabetic and hypothyroid 30-year-old female, who presented with chronic limb weakness, myalgia and bilateral leg swelling. After detailed history taking, clinical examination and laboratory investigations, she was diagnosed with nephrotic syndrome and proximal RTA associated with vitamin D deficiency. She had hypokalaemia with acidosis initially and was managed with diuretics, Angiotensin Converting Enzyme (ACE) inhibitors, vitamin D and potassium supplementation, after which, she developed hyperkalaemia with acidosis. She was evaluated for hyperkalaemic RTA and its common causes and was diagnosed with hyperkalaemic RTA associated with diabetes. Thus, treatment of type-2 RTA due to vitamin D deficiency, led to unmasking of underlying type-4 RTA due to diabetic nephropathy.

Keywords

Angiotensin converting enzyme inhibitors, Diabetes mellitus, Vitamin D deficiency

Case Report

A 30-year-old female presented with complaints of generalised myalgia and muscle cramps, bilateral Upper Limb (UL) and Lower Limb (LL) weakness for the past one year. She had history of dyspnoea on exertion and dysphagia over the past three months. She was known to have type-2 diabetes mellitus, and was on insulin. She was also on thyroid supplements. She had no history of intake of any Over The Counter (OTC) medications. She had history of bilateral leg swelling and facial puffiness over the past two years which was diagnosed elsewhere as nephrotic syndrome secondary to diabetes. But, she had stopped taking the medications soon after.

On examination, she a had short stature and genu valgum, was malnourished and anaemic, with bilateral pitting pedal oedema, UL:LL ratio of 0.8. Oral cavity showed dental caries and malaligned teeth (Table/Fig 1). Her height was 134 cm, weight was 30 kg, and blood pressure was 110/70 mmHg. Neurological examination showed wasting of proximal muscles more than distal muscles in both UL and LL, power of three in proximal and distal UL muscles on both sides and a power of two in proximal and three in distal LL muscle in both sides and a waddling gait.

On palpation, she had bony tenderness over the lateral chest wall bilaterally. Fundus examination showed bilateral proliferative diabetic retinopathy with tractional retinal detachment in right eye (Table/Fig 1). Systemic examination of her cardiovascular, respiratory and gastrointestinal systems were normal.

Her initial investigations showed elevated creatinine (1.45 mg/dL) with estimated Glomerular Filtration Rate (eGFR) of 48 mL/min/1.73 m2. Serum electrolyte showed hypokalaemia, hypocalacemia (Ionised.calcium-0.739; normal range:1.1-1.3 mmol/L) and metabolic acidosis with normal anion gap. Sodium was 138 mEq/L (normal range:136-146 mEq/L) (Table/Fig 2).

Urine Protein Creatinine Ratio (PCR) was in nephrotic range (Urine-PCR:27.16). Her Vitamin D levels were low, Parathyroid Hormone (PTH) was elevated, Alkaline Phosphatase (ALP) was elevated, Total serum calcium was low and serum phosphorus was decreased (Table/Fig 3). Ultrasonogram (USG) of abdomen showed calcified pancreas with normal-sized kidneys.

The initial clinical impression was diabetic-nephropathy and metabolic bone disease with vitamin D deficiency. She was treated with oral calcium 500 mg BD and vitamin D 1000 IU BD, and started on loop diuretics, tab. furosemide 20 mg BD and angiotensin converting enzyme Inhibitor (ACEI), tab. enalapril 10 mg OD.

After three days of treatment her electrolytes showed severe hyperkalaemia and Normal Anion Gap Metabolic Acidosis (NAGMA).ACEIs were stopped. Treatment was initiated with intravenous insulin in dextrose soultion Q8Hourly, Salbutamol nebulisation 2.5 mg every six hours and oral potassium-binders 15 gm/sachet twice/day and the potassium values, remained persistently elevated. Urinary work-up for RTA was done and reports were suggestive of type-4-RTA as shown in (Table/Fig 4).

Slit lamp examination for cystine corneal deposits was normal. Fasting (8 am) serum cortisol for Addison’s disease was normal. Normal Creatine-phosphokinase (CPK) ruled out any muscle injury. Normal lactate levels reduced the possibility of presence of mitochondrial dysfunction. Autoimmune profile, viral serology, Serum-electrophoresis were negative. USG-abdomen ruled out obstructive uropathy. Renal biopsy reports showed diabetic glomerulosclerosis.

She was treated with tab. fludrocortisone 0.1 mg as OD and bicarbonate infusion for three days, then switched to oral route following which potassium (3.52 mEq/L) and bicarbonate (21.1 mEq/L) levels normalised on day 26 of hospital stay. On day 25 her weakness which, as assessed neurologically, improved with a power of 4/5, and the oedema also reduced clinically.

She was discharged with oral fludrocortisone 0.1 mg OD, vitamin D 1000 IU and calcium 500 mg BD. After four weeks of follow-up her potassium was in normal range and creatinine was 1.36 mg/dL.

Discussion

The RTA is a group of disorders that occurs as a result of disruption to the acid base homeostasis mechanisms. On clinical and patho-physiological basis, RTA are classified into three main categories: i) Proximal/type-2-RTA ii) Distal/type-1-RTA and iii) Hyperkalaemic/type-4-RTA (1). Proximal/type-2-RTA is caused by impairment in proximal reabsorption of bicarbonate ions. It can occur as an isolated defect or in association with other proximal tubular defects (Fanconi syndrome). It can be either hereditary or secondary to various diseases. Stunted growth is the most common presentation in children. Osteopenia and pseudofractures are seen in adults. Common causes of proximal RTA are cystinosis, Fanconi syndrome, multiple myeloma, primary hyperparathyroidism, Sjögren’s syndrome, antiretroviral drugs and chemotherapy drugs, Wilson’s disease, vitamin D deficiency (1),(2).

The type-4-RTA, is caused due to aldosterone deficiency/resistance or by its inhibition by drugs. It presents as hyperkalaemic-hyperchloraemic metabolic acidosis. Hyperkalaemia impairs renal ammonia synthesis. Common causes include Addison’s disease, diabetic nephropathy, Acquired Immunodeficiency Syndrome (AIDS) nephropathy obstructive-uropathy, Lupus nephritis, Amyloidosis, analgesic abuse nephropathy, drugs like Cyclooxygenase (COX) inhibitors, ACEI, Heparin and potassium-sparing diuretics (3). Hyporeninemic-hypoaldosteronism is the most common cause of Type-4-RTA. Correction of hyperkalaemia and alkali therapy corrects and maintains acid-base equilibrium. Mineralocorticoid replacement is effective (4). Type-2-RTA, commonly presenting in children in form of rickets in the context of Fanconi syndrome is due to genetic cause. In adults type-2-RTA in context of Fanconi syndrome, as seen in index patient, was mostly due to an acquired cause (5),(6). The common presentation is stunted growth, muscle weakness (5), with osteomalacia and bony deformity with pain being observed in patients with concominant vitamin D deficiency (7),(8). The index patient had limb weakness, muscle cramps and wasting, bone pain, short stature, genu valgum with fluid retention.

Laboratory investigations of type-2-RTA with Fanconi syndrome usually shows hypokalaemia, metabolic acidosis, hypocalacemia, hypophosphataemia, glycosuria, nephrotic proteinuria (7),(8). The index patient had hypokalaemia, NAGMA, hypocalacemia, hypophosphatemia, glycosuria, aminoaciduria suggesting a proximal tubular defect. Furthur evaluation showed vitamin D deficiency. Vitamin D deficiency causes low calcium and phosphorus with elevated ALP and PTH which leads to reduced HCO3 reabsorption in proximal tubule. The increased delivery of HCO3 to distal tubules increases urine flow rate leading to potassium wasting and hypokalaemia (9). Other causes of type-2-RTA were ruled out. The age of onset, absence of extra-renal manifestations of genetic causes and negative history of drug/toxin exposure ruled out other causes of Fanconi syndrome. Other similar cases of vitamin D deficiency causing Fanconi syndrome are reported in literature (7),(8).

The patient was treated with potassium, vitamin D and calcium supplementation. She was started on ACEI and loop diuretics. On third day of treatment, she developed severe hyperkalaemia. Arterial Blood Gases (ABG) showed NAGMA. ACEI was stopped. She was treated with anti-hyperkalaemic measures and alkali replacement. Her potassium remained elevated. Type-4-RTA mostly presents with biochemical changes and clinical manifestations could be of the underlying cause for RTA (10),(11). Her urine analysis reports showed a positive UAG which denotes a distal renal defect, urinary pH of 5.5 (acidic) and a TTKG of 2 which denotes that the collecting ducts are not responding to the prevailing hyperkalaemia with an impaired potassium secretion due to either aldosterone deficiency/resistance. These findings were suggestive of type-4-RTA (11). Diabetic nephropathy leads to renal tubular damage with decreases renin synthesis, therefore aldosterone production, which inturn cause chronic hyperkalaemia (12). The patient, a diabetic with biopsy proven diabetic glomerulosclerosis, have hyporeninemic-hypoaldosteronism which is the cause of underlying type-4-RTA (10),(13). On treatment with mineralocorticoid and alkali therapy, the refractory hyperkalaemia started responding (4),(12). Characteristics of the types of RTA mentioned in (Table/Fig 5) (1).

The patient initially presented with a type-2-RTA secondary to vitamin D deficiency which was a reversible cause. Treatment of the reversible defect led to the unmasking of underlying type-4-RTA presenting as refractory hyperkalaemia, NAGMA, mild-moderate renal dysfunction and TTKG of < 2 (1),(10). Other common causes of RTA were ruled out.

The main defect in type-4-RTA is impaired ammoniagenesis producing a defect in distal acidification. Aldosterone deficiency/resistance causes hyperkalaemia which in turn leads to reduced ammonia. Bicarbonate reabsorption can be reduced at a normal serum bicarbonate level, but this reduction is not significant to denote a proximal defect. Hyperkalaemia can be also seen in voltage-dependent type-1-RTA, but unlike this condition, urine acidity is maintained in response to systemic acidosis in type-4-RTA (1).

In this patient, type-4-RTA is due to diabetic nephropathy which was unmasked while treating the initial presentation of type-2-RTA. Use of ACEI in this patient triggered for aggravating the renin-aldosterone system impairment, thereby, precipitating hyperkalaemia of an unrecognised renal tubular defect (13). Combined proximal/distal RTA is seen in few genetic disorders.

Type-2-RTA presenting on an underlying type-4-RTA is not so common. If present most likely the proximal defect is due to a reversible cause. Thus, caution must be exercised, when treating the proximal defect which can avoid the life-threatening complications of refractory hyperkalaemia, produced by the underlying pathology.

Conclusion

In conclusion, co-existence of both type-2 and type-4-RTA is rare but possible. In the present case, initial type-2-RTA was transient and reversible, treatment of which lead to the unmasking of underlying type-4-RTA. The message is that, combined presentation of hypokalaemic and hyperkalaemic RTA can be expected and cautious correction of hypokalaemia is needed so that fatal hyperkalaemia can be prevented in patients, with underlying type-4-RTA. Use of drugs producing hyperkalaemia should also be avoided, in such patients.

References

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Maddox DA, Deen WM, Gennari FJ. Control of bicarbonate and fluid reabsorption in the proximal convoluted tubule. Semin Nephrol. 1987;7(1):72-81.
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Sebastian A, Schambelan M, Lindenfeild S, Morris Jr RC. Amelioration of metabolic acidosis with fludrocortisone therapy in hyporeninemic hypoaldosteronism. N Engl J Med. 1977;297(11):576-83. [crossref] [PubMed]
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Messiaen T, Deret S, Mougenot B, Bridoux F, Dequiedt P, Dion JJ, et al. Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients. Medicine (Baltimore). 2000;79(3):135-54. [crossref] [PubMed]
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Taylor HC, Elbadawy EH. Renal tubular acidosis type 2 with Fanconi’s syndrome, osteomalacia, osteoporosis, and secondary hyperaldosteronism in an adult consequent to vitamin D and calcium deficiency: Effect of vitamin D and calcium citrate therapy. Endocr Pract. 2006;12(5):559-67. [crossref] [PubMed]
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Ali Y, Parekh A, Baig M, Ali T, Rafiq T. Renal tubular acidosis type II associated with vitamin D deficiency presenting as chronic weakness. Ther Adv Endocrinol Metab. 2014;5(4):86-89. [crossref] [PubMed]
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Ahmed A, Sims RV. Proximal renal tubular acidosis associated with osteomalacia. South Med J. 2001;94(5):536-39. [crossref] [PubMed]
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Sousa AG, de Sousa Cabral JV, El-Feghaly WB, de Sousa LS, Nunes AB. Hyporeninemic hypoaldosteronism and diabetes mellitus: Pathophysiology assumptions, clinical aspects and implications for management. World J Diabetes. 2016;7(5):101-11. [crossref] [PubMed]
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DOI and Others

DOI: 10.7860/JCDR/2022/56154.16979

Date of Submission: Mar 08, 2022
Date of Peer Review: May 03, 2022
Date of Acceptance: Aug 05, 2022
Date of Publishing: Nov 01, 2022

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes

PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Mar 22, 2022
• Manual Googling: Jul 27, 2022
• iThenticate Software: Aug 04, 2022 (7%)

ETYMOLOGY: Author Origin

JCDR is now Monthly and more widely Indexed .
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