scholarly journals A clinical case of renal tubular acidosis type 1 in a 1-month old baby

2017 ◽  
Vol 98 (1) ◽  
pp. 129-131
Author(s):  
E V Voljanjuk ◽  
I J Lutfullin
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Rare Case ◽  
Metabolic Disorders ◽  
Hydrogen Ions ◽  
Distal Nephron ◽  
First Onset ◽  
Life Threatening ◽  
Renal Tubular

Renal tubular acidosis is a group of tubular diseases of the kidneys, whiсh are characterized by disorders of bicarbonate reabsorption, secretion of hydrogen ions, or a combination of both defects and cause metabolic acidosis with preserved glomerular filtration. Distal renal tubular acidosis is characterized by severe hyperchloraemic metabolic acidosis due to impaired excretion of hydrogen ions in the distal nephron. The prevalence of the primary distal renal acidosis is 1:40 000. Most often the first onset of the disease occurs at the age of 6 months to 2 years. The article presents a rare case of tubular acidosis type 1 in a child at the age of 1 month and 5 days. The presented case demonstrates that renal tubular acidosis can clinically manifest in children during the first months of life leading even at this age to severe metabolic disorders requiring certain raised level of suspicion for this pathology. Rarity of distant tubular acidosis is one of the factors predisposing to difficulty and tardiness of its diagnosis that leads to early disability and high risk of life-threatening conditions.

scholarly journals Acute Respiratory Failure Due to Hypokalaemic Muscular Paralysis from Renal Tubular Acidosis

2005 ◽  
Vol 33 (5) ◽  
pp. 656-658 ◽  
Author(s):  
S. Gombar ◽  
P. J. Mathew ◽  
K. K. Gombar ◽  
S. D'Cruz ◽  
G. Goyal
Keyword(s):  
Mechanical Ventilation ◽  
Metabolic Acidosis ◽  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Renal Tubular Acidosis ◽  
Cardiac Arrhythmias ◽  
Distal Renal Tubular Acidosis ◽  
Life Threatening ◽  
Renal Tubular ◽  
Potassium Replacement

We report a case of hypokalaemic quadriplegia with acute respiratory failure and life-threatening cardiac arrhythmias in a 26-year-old woman who was diagnosed to have distal renal tubular acidosis. She had persistent metabolic acidosis with severe hypokalaemia and required mechanical ventilation and potassium replacement. The anaesthetic implications of renal tubular acidosis are also discussed.

scholarly journals ASIDOSIS TUBULAR RENAL DISTAL

2020 ◽  
Vol 5 (1) ◽  
pp. 265
Author(s):  
Ayu Pathya ◽  
Harnavi Harun
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Bone Growth ◽  
Hydrogen Ion ◽  
Genetic Mutations ◽  
Growth Disorders ◽  
Urine Ph ◽  
Renal Tubular ◽  
Hands And Feet

<p><em>Asidosis tubular renal (ATR) merupakan tubulopati ginjal yang jarang terjadi, dimana terdapat ketidakmampuan ginjal untuk menjaga perbedaan pH normal antara darah dan lumen tubulus ginjal. Pada kondisi ini terjadi gangguan pengasaman urin disebabkan gangguan reabsorbsi bikarbonat, gangguan ekskresi ion hidrogen, atau keduanya sehingga mengakibatkan asidosis metabolik. ATR ditandai dengan adanya asidosis metabolik dengan senjang anion plasma yang normal, hiperkloremik dan laju filtrasi glomerulus normal. ATR terbagi menjadi 3 tipe utama, yaitu ATR tipe 1 (ATR distal), tipe-2 (ATR proksimal), dan tipe 4 (ATR hiperkalemia). ATR distal merupakan ATR yang disebabkan oleh defek pada tubulus distal ginjal, dimana defek ini menyebabkan gangguan pada sekresi ion hidrogen. Beberapa penelitian menunjukkan bahwa ATR tipe 1 dikaitkan dengan mutasi genetik. Mutasi genetik herediter dapat autosomal dominan atau autosomal resesif. Gambaran klinis dapat mencakup kelainan pertumbuhan tulang, kelemahan atau kelumpuhan otot, deposit kalsium di ginjal, anoreksia, muntah, konstipasi, diare, dehidrasi, dan poliuria. Telah dilaporkan kasus pasien wanita usia 19 tahun dengan keluhan utama kelemahan di kedua tangan dan kaki. Dari penelusuran klinis dan laboratorium  didapatkan hipokalemia dan berdasarkan pendekatan hipokalemia dengan HCO3- rendah dan pH urine &gt;5,5, diagnosis pada pasien ini ditegakkan sebagai asidosis tubulus renal distal (ATRd).</em></p><p><strong><em>Kata kunci:</em></strong><em> </em><em>ATR, ATRd,  asidosis metabolik, hiperkloremik, hipokalemia </em><em></em></p><p><strong><em>Abstract</em></strong></p><p><em>Renal tubular acidosis (RTA) is a condition caused by the inability of the kidneys to maintain normal pH differences between the blood and tubules lumen of the kidney. Renal tubular acidosis is a rare kidney tubulopathy. In this condition, urine acidification is caused by bicarbonate reabsorption, disruption of hydrogen ion excretion, or both, resulting in metabolic acidosis. RTA is characterized by metabolic acidosis with normal plasma anion, hyperchloremic gaps and normal glomerular filtration rates. RTA is divided into 3 main types, namely type 1 RTA (distal RTA), type-2 (proximal RTA), and type 4 (hyperkalemia RTA). Distal RTA caused by defects in the distal tubules of the kidney, where these defects cause interference with the hydrogen ion secretion. Several studies have shown that type 1 RTA is associated with genetic mutations. Hereditary genetic mutations can be autosomal dominant or autosomal recessive. Clinical features can include bone growth disorders, muscle weakness or paralysis, calcium deposits in the kidneys, anorexia, vomiting, constipation, diarrhea, dehydration, and polyuria. There has been a reported case of a 19-year-old female patient with a chief complaint weakness in both hands and feet. From clinical and laboratory investigations, it was found that hypopotassium and based on the hypokalemia approach with low HCO3- and urine pH &gt;5,5, the diagnosis in this patient was established as a distal renal tubular acidosis (RTAd)</em> <strong><em> </em></strong></p><p><strong><em>Keywords: </em></strong><em>RTA, RTAd ,metabolic acidosis, hypopotassium, hiperchloremic</em></p><p><em> </em></p>

scholarly journals Distal renal tubular acidosis: a systematic approach from diagnosis to treatment

2021 ◽  
Author(s):  
Sabrina Giglio ◽  
Giovanni Montini ◽  
Francesco Trepiccione ◽  
Giovanni Gambaro ◽  
Francesco Emma
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Molecular Mechanisms ◽  
Clinical Symptoms ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Current Treatment ◽  
Hydrogen Ions ◽  
Renal Tubular

AbstractRenal tubular acidosis (RTA) comprises a group of disorders in which excretion of hydrogen ions or reabsorption of filtered HCO3is impaired, leading to chronic metabolic acidosis with normal anion gap. In the current review, the focus is placed on the most common type of RTA, Type 1 RTA or Distal RTA (dRTA), which is a rare chronic genetic disorder characterized by an inability of the distal nephron to secrete hydrogen ions in the presence of metabolic acidosis. Over the years, knowledge of the molecular mechanisms behind acid secretion has improved, thereby greatly helping the diagnosis of dRTA. The primary or inherited form of dRTA is mostly diagnosed in infancy, childhood, or young adulthood, while the acquired secondary form, as a consequence of other disorders or medications, can happen at any age, although it is more commonly seen in adults. dRTA is not as “benign” as previously assumed, and can have several, highly variable long-term consequences. The present review indeed reports and summarizes both clinical symptoms and diagnosis, long-term outcomes, genetic inheritance, epidemiology and current treatment options, with the aim of shedding more light onto this rare disorder. Being a chronic condition, dRTA also deserves attention in the transition between pediatric and adult nephrology care, and as a rare disease it has a place in the European and Italian rare nephrological diseases network.

scholarly journals SUN-512 Graves’ Disease Induced Renal Tubular Acidosis

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Asma Khaled Aljaberi ◽  
Shamma Al Shamsi
Keyword(s):  
Metabolic Acidosis ◽  
Thyroid Function ◽  
Renal Tubular Acidosis ◽  
Bone Remodelling ◽  
Thyroid Peroxidase ◽  
Graves Disease ◽  
Renal Tubules ◽  
Urine Calcium ◽  
Renal Tubular

Abstract Thyroid gland can affect kidney function in different ways. Thyroxine as a master hormone of metabolism and growth works in many cellular levels include the renal tubules. We present a 34-year-old Emirati gentleman who presented with multiple episodes of hypokalemic periodic paralysis. Blood test revealed thyrotoxic state, with highly positive serology for thyroid peroxidase, anti-thyroglobulin and thyrotropin receptor antibodies. Thyroid uptake scan confirmed homogenous diffuse uptake consistent with toxic diffuse goitre [Graves’ disease]. In view of recent fracture, bone profile and DXA scan were done. Investigations revealed vitamin D deficiency and below expected for age bone mass density. The patient was started on symptomatic treatment with propranolol, IV and oral potassium along with IVF hydration. Routine blood work during admission showed a persistent normal anion Gap metabolic acidosis, serum bicarb 15 mmol/l. 24 hours urine electrolytes revealed normal potassium, sodium, high magnesium, low calcium and PH levels. Biochemical lab results suggested type 1 renal tubular acidosis. As the patient had hypokalaemia, high urine magnesium and low urine calcium and limbs weakness, Gitleman Syndrome was considered in the differential diagnosis. Whole Exome Sequencing (CentoXome GOLD®) was sent which came back negative. The following gene panels were studied: Renal tubular acidosis panel: ATP6V0A4, ATP6V1B1, CA2, EHHADH, HNF4A, SLC34A1, SLC4A1, SLC4A4. Bartter Syndrome panel: ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2,KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1. Gene related to Gitelman syndrome: SLC12A3 Renal tubular acidosis was treated with KCL 600mg PO TID, Na bicarb 1200mg PO BID and spironolactone 25 mg PO OD. The patient received radioactive iodine (RAI) as the ultimate treatment for Graves’ disease. He developed hypothyroidism post RAI ablation and commenced on levothyroxine. Improvement of the metabolic acidosis was noticed in line with improvement of thyroid function. Na bicarb and spironolactone tablets were stopped eventually as the patient was euthyroid clinically and biochemically. Overt hyperthyroidism is associated with accelerated bone remodelling, leading to hypercalciuria, which can predispose to nephrocalcinosis and renal tubular damage, and therefore causes type 1 renal tubular acidosis. Once the patient becomes euthyroid, bone remodelling and urine calcium return to normal levels and that would correct the renal acidosis. This case report serves to highlight the effect of Graves’ disease on renal tubules which may result in type 1 renal tubular acidosis. This effect could be reversible with normalization of thyroid function.

Approach to the patient with renal tubular acidosis

2015 ◽  
Author(s):  
Stephen B. Walsh
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Proximal Tubular ◽  
Acid Secreting ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular ◽  
Type 3

The renal tubular acidoses are a collection of syndromes characterized by defective urinary acidification. These syndromes have classically caused some confusion, and many opine that the widely used numerical system (type 1, 2) should be abandoned. We consider distal renal tubular acidosis and proximal renal tubular acidosis separately, and briefly cover hypoaldosteronism. Distal (Type 1) renal tubular acidosis is a syndrome of hypokalaemia, metabolic acidosis, kidney stones, nephrocalcinosis, and osteomalacia or rickets. It is caused by failure of the acid secreting α‎‎‎-intercalated cells in the distal nephron. Proximal (Type 2) renal tubular acidosis is a syndrome of metabolic acidosis that is almost always accompanied by the Fanconi syndrome of glycosuria, phosphaturia, uricosuria, aminoaciduria, and low-molecular-weight proteinuria. It is caused by a failure of bicarbonate reabsorption by the proximal tubular cells. Type 3 or mixed renal tubular acidosis, as originally described, has vanished (or was originally incompletely described). It is sometimes used to describe a mutation of carbonic anhydrase II, which causes both proximal and distal renal tubular acidosis, as well as cerebral calcification and osteopetrosis. Type 4 or hypoaldosteronism is a syndrome of hyperkalaemia and mild metabolic acidosis. It is due to a lack of aldosterone or resistance to its action.

Acid-Base Disorders

2018 ◽  
Author(s):  
Aaron Skolnik ◽  
Jessica Monas
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Metabolic Alkalosis ◽  
Respiratory Acidosis ◽  
The Body ◽  
Anion Gap ◽  
Hydrogen Ions ◽  
Acid Base Balance ◽  
Acid Base ◽  
Renal Tubular

Under physiologic conditions, the acid-base balance of the body is maintained via changes in ventilation that eliminate carbon dioxide, buffering of acid loads, and renal excretion of hydrogen ions. Failure to maintain the pH of the blood between 7.35 and 7.45 can result in life-threatening conditions. This review details the pathophysiology, stabilization and assessment, diagnosis and treatment, and disposition and outcomes of acid-base disorders. Figures show the relationship between hydrogen ions and blood pH, proximal tubular bicarbonate reabsorption, the secretion of hydrogen ions, renal ammonia production, ammonium diffusion, metabolic alkalosis, electrocardiographic changes in hypokalemia and hyperkalemia, pseudoinfarction caused by hyperkalemia, and an algorithmic approach to suspected acid-base disorders. Tables list causes of high–anion gap metabolic acidosis, metabolic acidosis with a normal anion gap, type 1 renal tubular acidosis, type 4 renal tubular acidosis and aldosterone resistance, metabolic alkalosis, respiratory acidosis, and respiratory alkalosis; treatment of hyperkalemia; and a stepwise approach for the evaluation of suspected acid-base disorders. This review contains 9 highly rendered figures, 9 tables, 64 references, and a list of pertinent Web sites.

Acid-Base Disorders

2015 ◽  
Author(s):  
Aaron Skolnik ◽  
Jessica Monas
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Metabolic Alkalosis ◽  
Respiratory Acidosis ◽  
The Body ◽  
Anion Gap ◽  
Hydrogen Ions ◽  
Acid Base Balance ◽  
Acid Base ◽  
Renal Tubular

Under physiologic conditions, the acid-base balance of the body is maintained via changes in ventilation that eliminate carbon dioxide, buffering of acid loads, and renal excretion of hydrogen ions. Failure to maintain the pH of the blood between 7.35 and 7.45 can result in life-threatening conditions. This review details the pathophysiology, stabilization and assessment, diagnosis and treatment, and disposition and outcomes of acid-base disorders. Figures show the relationship between hydrogen ions and blood pH, proximal tubular bicarbonate reabsorption, the secretion of hydrogen ions, renal ammonia production, ammonium diffusion, metabolic alkalosis, electrocardiographic changes in hypokalemia and hyperkalemia, pseudoinfarction caused by hyperkalemia, and an algorithmic approach to suspected acid-base disorders. Tables list causes of high–anion gap metabolic acidosis, metabolic acidosis with a normal anion gap, type 1 renal tubular acidosis, type 4 renal tubular acidosis and aldosterone resistance, metabolic alkalosis, respiratory acidosis, and respiratory alkalosis; treatment of hyperkalemia; and a stepwise approach for the evaluation of suspected acid-base disorders. This review contains 9 highly rendered figures, 9 tables, 64 references, and a list of pertinent Web sites.

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