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"Distal renal tubular acidosis"

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https://www.readbyqxmd.com/read/27900972/failure-to-thrive-and-nephrocalcinosis-due-to-distal-renal-tubular-acidosis-a-rare-presentation-of-pediatric-lupus-nephritis
#1
Madhumita Nandi, Mrinal Kanti Das, Sukanta Nandi
A 9-year-old female child was initially diagnosed of having nephrocalcinosis with distal renal tubular acidosis (dRTA) while investigating for short stature. She later on developed features of nephrotic syndrome (NS) while on treatment for RTA. Investigation for the cause of NS revealed very strong serological evidence in favor of systemic lupus erythematosus (SLE). Histopathological confirmation could not be done due to bilateral severely contracted kidneys. There are a few case reports of dRTA as the presentation of SLE, but nephrocalcinosis with dRTA with subsequent manifestation of SLE has hitherto not been reported in literature...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27889732/distal-renal-tubular-acidosis-associated-with-celiac-disease-and-thyroiditis
#2
Amit Kumar Satapathy, Sapna Mittal, Vandana Jain
BACKGROUND: Association of distal renal tubular acidosis (RTA) with autoimmune diseases is extremely rare in children. CASE CHARACTERISTICS: 12-year-old girl with distal RTA. Despite resolution of acidosis on bicarbonate, she continued to have poor growth and delayed puberty. Investigations revealed autoimmune thyroiditis and celiac disease. OUTCOME: Levothyroxine and gluten-free diet were initiated. Child gained height and weight and had onset of puberty after gluten withdrawal...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27866471/distal-renal-tubular-acidosis-without-renal-impairment-after-use-of-tenofovir-a-case-report
#3
Kentaro Iwata, Manabu Nagata, Shuhei Watanabe, Shinichi Nishi
BACKGROUND: Tenofovir, one of antiretroviral medication to treat human immunodeficiency virus (HIV) infection, is known to cause proximal renal tubular acidosis such as Fanconi syndrome, but cases of distal renal tubular acidosis had never been reported. CASE PRESENTATION: A 20-year-old man with HIV infection developed nausea and vomiting without diarrhea after starting antiretroviral therapy. Arterial blood gas revealed non-anion-gap metabolic acidosis and urine test showed positive urine anion gap...
November 21, 2016: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27767102/a-single-nucleotide-polymorphism-in-kidney-anion-exchanger-1-gene-is-associated-with-incomplete-type-1-renal-tubular-acidosis
#4
Takumi Takeuchi, Mami Hattori-Kato, Yumiko Okuno, Atsushi Kanatani, Masayoshi Zaitsu, Koji Mikami
Various conditions including distal renal tubular acidosis (dRTA) can induce stone formation in the kidney. dRTA is characterized by an impairment of urine acidification in the distal nephron. dRTA is caused by variations in genes functioning in intercalated cells including SLC4A1/AE1/Band3 transcribing two kinds of mRNAs encoding the Cl(-)/HCO3(-) exchanger in erythrocytes and that expressed in α-intercalated cells (kAE1). With the acid-loading test, 25% of urolithiasis patients were diagnosed with incomplete dRTA...
October 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27752013/transient-distal-renal-tubular-acidosis-following-hump-nosed-viper-bite-two-cases-from-sri-lanka
#5
Ranga M Weerakkody, Pushpa N Lokuliyana, Ruchika D Lanerolle
Hump-nosed viper (Hypnale hypnale; HNV) is one of the six major snake species in Sri Lanka that cause envenomation. Nephrotoxicity, coagulopathy, and neurotoxicity are wellrecognized features of its envenomation. Type 4 renal tubular acidosis (RTA4) has only once been described previously in this condition, and we report two further cases. Two patients aged 53 and 51 presented following HNV bites with acute kidney injury and microangiopathic hemolytic anemia. Both underwent multiple cycles of hemodialysis until the polyuric phase was reached...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27735149/clinical-and-aetiological-spectrum-of-hypokalemic-flaccid-paralysis-in-western-odisha
#6
Biranchi Narayan Mohapatra, Sujit Kumar Lenka, Manoranjan Acharya, Chakradhar Majhi, Gouri Oram, Khetra Mohan Tudu
OBJECTIVE: To study the clinical profile of hypokalemic flaccid paralysis (HKFP) and to evaluate its causes. METHODS: Fifty cases of hypokalemic flaccid paralysis (HKFP) admitted between November 2012 to October 2014 were taken up in the study. Serum potassium level < 3.5 mmol/ltr has been taken as hypokalemia. All cases were studied for spot and/or 24 hour urinary sodium / potassium, serum potassium / calcium / magnesium. Hypokalemic periodic paralysis (HPP) were diagnosed if there was spot/24 hour urine potassium excretion < 20mmol/ltr in presence of hypokalemia and flaccid weakness without other causes...
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27728182/sjogren-s-syndrome-presenting-as-hypokalemic-paralysis-due-to-distal-renal-tubular-acidosis
#7
Krishna Prasad A
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27718309/band-3-null-vienna-a-novel-homozygous-slc4a1-p-ser477x-variant-causing-severe-hemolytic-anemia-dyserythropoiesis-and-complete-distal-renal-tubular-acidosis
#8
Leo Kager, Lesley J Bruce, Petra Zeitlhofer, Joanna F Flatt, Tabita M Maia, M Leticia Ribeiro, Bernhard Fahrner, Gerhard Fritsch, Kaan Boztug, Oskar A Haas
We describe the second patient with anionic exchanger 1/band 3 null phenotype (band 3 null(VIENNA) ), which was caused by a novel nonsense mutation c.1430C>A (p.Ser477X) in exon 12 of SLC4A1. We also update on the previous band 3 null(COIMBRA) patient, thereby elucidating the physiological implications of total loss of AE1/band 3. Besides transfusion-dependent severe hemolytic anemia and complete distal renal tubular acidosis, dyserythropoiesis was identified in the band 3 null(VIENNA) patient, suggesting a role for band 3 in erythropoiesis...
October 8, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27704510/nephrocalcinosis-in-tunisian-children
#9
Manel Jellouli, Wiem Karoui, Kamel Abidi, Yousra Hammi, Ouns Naija, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Background Nephrocalcinosis is rare in children. Its etiologies are multiple. The aim of this study was to analyze the etiology of nephrocalcinosis in Tunisian children. Methods This retrospective study was conducted in the department of pediatrics in Charles Nicolle Hospital during a period of 10 years (2001-2010). Results There were 40 children. The mean age was 3.5 years. The most common signs and symptoms at presentation were growth retardation (42.5%) and hematuria (53.8%). At presentation, renal failure was detected in 70% of patients...
April 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/27493007/the-need-for-genetic-study-to-diagnose-some-cases-of-distal-renal-tubular-acidosis
#10
Manuel Heras Benito, Miguel A Garcia-Gonzalez, María Valdenebro Recio, Álvaro Molina Ordás, Ramiro Callejas Martínez, María Astrid Rodríguez Gómez, Leonardo Calle García, Lisbeth Sousa Silva, María José Fernández-Reyes Luis
We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27441596/advanced-ureteroscopy-for-stone-disease-characteristics-of-renal-papillae-in-kidney-stone-formers
#11
Tracy P Marien, Nicole L Miller
INTRODUCTION: The mechanism of kidney stone formation is not well understood. To better understand the pathophysiology for specific kidney stone compositions and systemic diseases associated with kidney stones, endoscopic papillary mapping studies with concurrent biopsies have been conducted. This review will summarize the findings of these studies and proposed mechanisms for thirteen disease processes associated with kidney stones. EVIDENCE ACQUISITION: A review of the literature was performed identifying thirteen studies that endoscopically mapped and biopsied renal papillae of different stone formers...
July 21, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/27374687/recurrent-attacks-of-hypokalemic-quadriparesis-an-unusual-presentation-of-primary-sj%C3%A3-gren-syndrome
#12
Shiva Seirafian, Mohammad Shafie, Amin Abedini, Bahram Pakzad, Peyman Roomizadeh
We herein report the case of a 64-year old woman with recurrent attacks of hypokalemic quadriparesis which resulted from distal renal tubular acidosis (dRTA) secondary to Sjögren syndrome. The patient presented with sudden onset quadriparesis. A physical examination showed symmetric weakness of all four limbs. Severe hypokalemia (1.8 mEq/L), accompanied by normal anion gap metabolic acidosis, a positive urine anion gap and an inappropriately high urine pH pointed toward the diagnosis of dRTA. Further investigations disclosed primary Sjögren syndrome, which had not previously been recognized...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27367914/recent-advances-in-understanding-renal-ammonia-metabolism-and-transport
#13
I David Weiner, Jill W Verlander
PURPOSE OF REVIEW: The purpose of this review is to provide a succinct description of the recent findings that advance our understanding of the fundamental renal process of ammonia metabolism and transport in conditions relevant to the clinician. RECENT FINDINGS: Recent studies advance our understanding of renal ammonia metabolism. Mechanisms through which chronic kidney disease and altered dietary protein intake alter ammonia excretion have been identified. Lithium, although it can acutely cause distal renal tubular acidosis, was shown with long-term use to increase urinary ammonia excretion, and this appeared to be mediated, at least in part, by increased Rhcg expression...
September 2016: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/27274828/a-novel-heterozygous-mutation-in-the-atp6v0a4-gene-encoding-the-v-atpase-a4-subunit-in-an-adult-patient-with-incomplete-distal-renal-tubular-acidosis
#14
Eri Imai, Shuzo Kaneko, Takayasu Mori, Tomokazu Okado, Shinichi Uchida, Yusuke Tsukamoto
A 40-year-old Japanese man who had a medical history of hypokalemic periodic paralysis 4 months prior was hospitalized to undergo a cholecystectomy. Hypokalemia, nephrocalcinosis and alkaluria suggesting distal renal tubular acidosis (dRTA) were detected, but metabolic acidosis was not evident. An ammonium chloride/furosemide-fludrocortisone/bicarbonate loading test demonstrated a remarkable disability in urinary H(+) excretion. A novel heterozygous mutation in the ATP6V0A4 gene encoding the vacuolar H(+)-ATPase (V-ATPase) a4 subunit p...
June 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27247958/mutations-in-atp6v1b1-and-atp6v0a4-genes-cause-recessive-distal-renal-tubular-acidosis-in-mexican-families
#15
Laura I Escobar, Christopher Simian, Cyrielle Treard, Donia Hayek, Carolina Salvador, Norma Guerra, Mario Matos, Mara Medeiros, Sandra Enciso, María Dolores Camargo, Rosa Vargas-Poussou
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia. METHODS: Nine unrelated families were studied: seven children, a teenager, and an adult with dRTA...
May 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27240665/n-acetylcysteine-in-cleistanthus-collinus-poisoning-a-report-of-two-cases-in-children
#16
Shreya Sharma, Ramachandran Rameshkumar, Subramanian Mahadevan
Cleistanthus collinus, also known as Oduvanthalai in Tamil, is the most commonly encountered plant poison in southern India. The leaves are used for poisoning humans (suicide or homicide) and animals (cattle and fish) and as an abortifacient, especially in rural south India. Although this poisoning is commonly reported in adults, data regarding the use of N-acetylcysteine in pediatric poisoning is lacking. We report two previously healthy male siblings of pediatric age group who ingested the liquid extracted from crushed leaves of this plant given to them by their mother as a means of deliberate harm...
May 29, 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/27147809/hashimoto-thyroiditis-and-nephrocalcinosis-in-a-child-with-down-syndrome
#17
Lidvana Spahiu, Haki Jashari, Vjosa Mulliqi-Kotori, Blerta Elezi-Rugova, Besart Merovci
INTRODUCTION: Hypothyroidism has been reported to affect renal function and structure. However, the association of hypothyroidism with distal renal tubular acidosis (dRTA) is rarely reported in children. CASE PRESENTATION: We present a 6-year-boy with Down syndrome admitted in our department due to vomiting, weakness, polyuria, polydipsia, irritability and weight loss in the last few weeks. Investigations revealed features of hypokalemia, metabolic acidosis and alkaline urine consistent with dTRA...
April 2016: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/27142563/tubulointerstitial-nephritis-and-fanconi-syndrome-in-a-patient-with-primary-sj%C3%A3-gren-s-syndrome-accompanied-by-antimitochondrial-antibodies-a-case-report-and-review-of-the-literature
#18
Takako Saeki, Akihiro Nakajima, Tomoyuki Ito, Takuma Takata, Naofumi Imai, Kazuhiro Yoshita, Hideyuki Kabasawa, Hajime Yamazaki, Ichiei Narita
We describe a 53-year-old woman with primary Sjögren's syndrome and tubulointerstitial nephritis showing distal renal tubular acidosis and Fanconi syndrome. The patient showed high serum IgM levels and positivity for antimitochondrial antibodies, although her liver function was in normal range. According to our literature review, 75% of patients with tubulointerstitial nephritis who were positive for antimitochondrial antibodies showed Fanconi syndrome, suggesting that these antibodies may directly be associated with the pathophysiology of Fanconi syndrome...
May 4, 2016: Modern Rheumatology
https://www.readbyqxmd.com/read/27140593/clinical-and-molecular-findings-in-three-moroccan-families-with-distal-renal-tubular-acidosis-and-deafness-report-of-a-novel-mutation-of-atp6v1b1-gene
#19
L Boualla, W Jdioui, K Soulami, I Ratbi, A Sefiani
BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare genetic condition characterized by an impaired acid excretion by the intercalated cells in the renal collecting duct. Recessive forms of this disease are caused by mutations in tow major genes: ATP6V1B1 and ATP6V0A4. Causal mutations in ATP6V1B1 gene are classically associated with early sensorineural hearing loss, however cases of tubular acidosis with early deafness have also been described in patients with mutations in the ATP6V0A4 gene...
January 2016: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/27122541/what-we-need-to-know-about-the-effect-of-lithium-on-the-kidney
#20
Rujun Gong, Pei Wang, Lance Dworkin
Lithium has been a valuable treatment for bipolar affective disorders for decades. Clinical use of lithium, however, has been problematic due to its narrow therapeutic index and concerns for its toxicity in various organ systems. Renal side effects associated with lithium include polyuria, nephrogenic diabetes insipidus, proteinuria, distal renal tubular acidosis, and reduction in glomerular filtration rate. Histologically, chronic lithium nephrotoxicity is characterized by interstitial nephritis with microcyst formation and occasional focal segmental glomerulosclerosis...
December 1, 2016: American Journal of Physiology. Renal Physiology
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