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Renal AND Renal tubular acidosis [keywords]
- Differential uptake of Tc-99m DMSA and Tc-99m EC in renal tubular disorders: Report of two cases and review of the literature. [Journal Article]
- Indian J Nucl Med 2014 Jul; 29(3):160-2.
Tc-99m DMSA and Tc-99m EC studies are invaluable functional imaging modalities for renal structural and functional assessment. Normally, the relative renal function estimated by the two methods correlates well with each other. We here present two patients with renal tubular acidosis who showed impaired/altered DMSA uptake with normal EC renal dynamic study depicting the pitfall of DMSA imaging in tubular disorders. The two presented cases also depict distinct pattern of Tc-99m DMSA scintigraphic findings in patients with proximal and distal renal tubular acidosis, thus highlighting the factors affecting DMSA kinetics.
- Osteomalacia complicating renal tubular acidosis in association with Sjogren's syndrome. [JOURNAL ARTICLE]
- Saudi J Kidney Dis Transpl 2014 September-October; 25(5):1072-1077.
Renal involvement in Sjogren's syndrome (SS) is not uncommon and may precede other complaints. Tubulointerstitial nephritis is the most common renal disease in SS and may lead to renal tubular acidosis (RTA), which in turn may cause osteomalacia. Nevertheless, osteomalacia rarely occurs as the first manifestation of a renal tubule disorder due to SS. We herewith describe a 43-year-old woman who was admitted to our hospital for weakness, lumbago and inability to walk. X-ray of the long bones showed extensive demineralization of the bones. Laboratory investigations revealed chronic kidney disease with serum creatinine of 2.3 mg/dL and creatinine clearance of 40 mL/min, hypokalemia (3.2 mmol/L), hypophosphatemia (0.4 mmol/L), hypocalcemia (2.14 mmol/L) and hyperchloremic metabolic acidosis (chlorine: 114 mmol/L; alkaline reserve: 14 mmol/L). The serum alkaline phosphatase levels were elevated. The serum levels of 25-hydroxyvitamin D and 1,25-dihydroxy vitamin D were low and borderline low, respectively, and the parathyroid hormone level was 70 pg/L. Urinalysis showed inappropriate alkaline urine (urinary PH: 7), glycosuria with normal blood glucose, phosphaturia and uricosuria. These values indicated the presence of both distal and proximal RTA. Our patient reported dryness of the mouth and eyes and Schirmer's test showed xerophthalmia. An accessory salivary gland biopsy showed changes corresponding to stage IV of Chisholm and Masson score. Kidney biopsy showed diffuse and severe tubulo-interstitial nephritis with dense lymphoplasmocyte infiltrates. Sicca syndrome and renal interstitial infiltrates indicated SS as the underlying cause of the RTA and osteomalacia. The patient received alkalinization, vitamin D (Sterogyl ®), calcium supplements and steroids in an initial dose of 1 mg/kg/day, tapered to 10 mg daily. The prognosis was favorable and the serum creatinine level was 1.7 mg/dL, calcium was 2.2 mmol/L and serum phosphate was 0.9 mmol/L.
- Metabolic disorders: stones as first clinical manifestation of significant diseases. [JOURNAL ARTICLE]
- World J Urol 2014 Sep 5.
Metabolic syndrome, type 2 diabetes, and primary hyperparathyroidism are metabolic disorders that should deserve a special focus in renal stone patients as a pathogenic link is established with some stone components. Indeed, an acidic urinary pH due to a decreased ammonium bioavailability explains the high prevalence of uric acid stones in patients with metabolic syndrome or diabetes and, primary hyperparathyroidism induced hypercalciuria increases the risk of calcium phosphate stones.We report here four clinical cases of renal stone patients with metabolic disorders encountered in a daily practice. Clinical and metabolic findings altogether with stone analysis components presented here, illustrate relevant pathophysiological links.24 hours urine evaluation and stone analysis which includes both morphological typing and infrared spectroscopy, are key diagnostic steps for early recognition of metabolic disorders. Metabolic screening allows diet related stone identification, points out stone risk factors and identifies patients'comorbidity. The occurrence of nephrocalcinosis with or without chronic renal failure should require a more detailed metabolic evaluation in order to identify uncommon etiologies such as renal tubular acidosis.
- Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1. [JOURNAL ARTICLE]
- Mol Genet Metab 2014 Aug 1.
Hereditary tyrosinemia type 1 (HT1) is characterized by severe progressive liver disease and renal tubular dysfunction. NTBC therapy has revolutionized the management of HT1 but its effect on renal tubular function has so far been poorly investigated. The aim of this study was to describe the early effect of NTBC on renal tubular disease in patients with HT1.Five HT1 patients (age between 5 and 53months) with different types of presentation were evaluated before and during the first 2weeks of therapy with NTBC in a retrospective case analysis for phosphate metabolism and renal tubular function.Before starting NTBC therapy, all children manifested signs of renal dysfunction which included hypophosphatemia, acidosis, reduced phosphate reabsorption, aminoaciduria, glycosuria (Fanconi syndrome), and variable degree of proteinuria. Some patients also presented increased urinary calcium/creatinine ratio and raised fractional excretion of sodium. Starting of NTBC therapy resulted in the rapid normalization of plasma phosphate within one week from its initiation in majority of patients and in all patients during the second week of therapy. TmP/GFR normalized in 48h, while the other markers of renal dysfunction showed an improving trend over 2weeks.NTBC is an efficient treatment for renal tubular dysfunction in HT1, allowing the return to normal function within a few weeks. Its early effect on renal tubular cells appeared to be very rapid, particularly in normalizing plasma phosphate and TmP/GFR. In our series of patients, the TmP/GFR resulted as the most reliable index of tubular function.
- Renal Tubular Acidosis in Sjögren's Syndrome: A Case Series. [JOURNAL ARTICLE]
- Am J Nephrol 2014 Aug 20; 40(2):123-130.
Background: The exact frequency of distal and proximal renal tubular acidosis (RTA) in Sjögren's syndrome is unknown. Other features of Sjögren's syndrome like polyuria, glomerular manifestations, familial occurrence and pregnancy are not widely reported. The aim was to prospectively study the clinical features and outcome of distal and proximal RTA in Sjögren's syndrome and also report on other renal manifestations of Sjögren's syndrome. Methods: The present study is a prospective consecutive case series of patients who presented with a history suggestive of RTA and Sjögren's syndrome. All patients were followed for 1 year. The diagnosis of RTA was by fractional excretion of bicarbonate. The diagnosis of Sjögren's syndrome was according to the American-European classification system [modified by Tzioufas and Voulgarelis: Best Pract Res Clin Rheumatol 2007;21:989-1010]. Results: The total number of RTA patients diagnosed during this period was 149. Sjögren's syndrome accounted for 34.8% (52 of 149) of RTA patients. The important symptoms and laboratory parameters were oral and ocular symptoms in 23 (44.2%), dental caries in 12 (23%), body pains in 47 (90.3%), mean serum pH 7.202 ± 0.03, mean serum bicarbonate, 14.03 ± 1.66 mmol/l, and mean urine pH, 7.125 ± 0.54. There were 30 (57.6%) patients with distal RTA and 22 (42.3%) patients with proximal RTA. Conclusions: The clinical implication of the present study is that RTA is a common feature of Sjögren's syndrome. It may be missed if the presentation is not due to oral and ocular symptoms. The present study is also the only one with a 1-year follow-up. © 2014 S. Karger AG, Basel.
- Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. [Journal Article]
- Nephrol Dial Transplant 2014 Sep.:iv113-iv116.
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by mutations in the SLC2A2 gene coding for the glucose transporter protein 2 (GLUT2). Major manifestations include hepatomegaly, glucose intolerance, post-prandial hypoglycaemia and renal disease that usually presents as proximal tubular acidosis associated with proximal tubule dysfunction (renal Fanconi syndrome). We report a patient harbouring a homozygous mutation of SLC2A2 who presented a dramatic exacerbation of metabolic acidosis in the context of a viral infection, owing to both ketosis and major urinary bicarbonate loss. The kidney biopsy revealed nuclear and cytoplasmic accumulation of glycogen in proximal tubule cells, a lack of expression of GLUT2, and major defects of key proteins of the proximal tubule such as megalin, cubilin and the B2 subunit of H(+)-ATPase. These profound alterations of the transport systems most likely contributed to proximal tubule alterations and profound bicarbonate loss.
- Incomplete Distal Renal Tubular Acidosis from a Heterozygous Mutation of the V-ATPase B1 Subunit. [JOURNAL ARTICLE]
- Am J Physiol Renal Physiol 2014 Aug 27.
Congenital distal renal tubular acidosis (dRTA) from mutations of the B1 subunit of the V-ATPase is considered an autosomal recessive disease. We analyzed a dRTA kindred with a truncation-mutation of B1 (p.Phe468fsX487) previously shown to have failure of assembly into the V1 domain of the V-ATPase. All heterozygous carriers in this kindred have normal plasma bicarbonate concentrations, thus evaded the diagnosis of RTA. However, inappropriately high urine pH, hypocitraturia, and hypercalciuria are present either individually or in combination in the heterozygotes at baseline. Two of the heterozygotes studied also have inappropriate urinary acidification with acute ammonium chloride loading and impaired urine-blood pCO2 gradient during bicarbonaturia indicating presence of H+ gradient and flux defects. In normal human renal papillae, wild type B1 is located primarily on the plasma membrane but papilla from one of the heterozygote who had kidney stones had renal tissue secured from surgery showed B1 in both plasma membrane as well as a diffuse intracellular staining. Titrating increasing amounts of the mutant B1 subunit did not exhibit negative dominance over the expression, cellular distribution, or H+-pump activity of the wild type B1 in mammalian HEK293 cells and in V-ATPase-deficient S. cerevisiae. This is the first demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of mutant B1 subunit; which cannot be attributable to negative dominance. We propose that heterozygosity may lead to mild real acidification defects due to haploinsufficiency. B1 heterozygosity should be considered in patients with calcium nephrolithiasis and urinary abnormalities such as alkalinuria or hypocitraturia.
- [Case of young woman with Graves' disease and incomplete distal renal tubular acidosis with severe progress and cardiac arrest]. [English Abstract, Journal Article]
- Pol Merkur Lekarski 2014 Jul; 37(217):53-5.
Diagnostic of renal tubular disorders can be often difficult. Incomplete form of distal Renal Tubular Acidosis (dRta) in course of Graves' disease was de novo recognized in a young woman hospitalized with a deep deficiency of potassium in blood serum complicated with cardiac arrest. Series of tests assessing the types and severity of water-electrolyte, acid-base and thyroid disorders were performed during a complex diagnosis. During the treatment of acute phase of the disease we intensified efforts to maintain basic life functions and to eliminate deep water-electrolyte disturbances. In the second phase of the treatment we determined an underlying cause of the disease, recognized dRTA, and introduced a specific long-term electrolyte and hormonal therapy. To confirm the diagnosis oral test with ammonium chloride (Wrong-Davies' test) was performed. After completion of the diagnostic and therapeutic process, the patient was included in the nephrological supervision on an outpatient basis. The basic drug for the therapy was sodium citrate. After a year of observation and continuing treatment we evaluated therapeutic results as good and permanent.
- Severe Hypophosphatemic Osteomalacia Secondary to Fanconi Syndrome Due to Adefovir: A Case Report. [JOURNAL ARTICLE]
- Endocr Pract 2014 Aug 22.:1-15.
Background: generalised proximal, type 2, Renal Tubular Acidosis, also known as Fanconi syndrome, is a generalised dysfunction of the proximal renal tubule characterized by impaired reabsorption and increased urinary loss of phosphate and other solutes such as uric acid, glucose, amino acids and bicarbonate. Chronic hypophosphatemia is the second most common cause of osteomalacia after vitamin D deficiency in adult patients. It can have a heterogeneous presentation ranging from mild symptoms such as muscle weakness and skeletal pain to more severe presentation such as disabling myopathy, severe bone and joint pain, difficult walking, and even bone fractures.Objective: this report describes a case of severe hypophosphatemic osteomalacia with multiple fragility fractures induced by adefovir, which was worsened and confounded by a previous treatment with zoledronic acid and required prolonged i.v. potassium phosphate administration. Results and conclusions: we highlight the limited diagnostic value of DXA and bone scintigraphy in this challenging diagnosis. Bone metabolism should be always assessed in patients treated with adefovir for early detection of osteomalacia due to Fanconi Syndrome. Although rare, this condition may be life-threatening and mimic other bone metabolic disorders that are treated with drugs which may further impair phosphate balance.
- Wilson's disease - A rare cause of renal tubular acidosis with metabolic bone disease. [Journal Article]
- Indian J Nephrol 2014 May; 24(3):171-4.
We report a 16-year-old boy who presented with weakness of lower limbs. He was diagnosed to have Wilson's disease, renal tubular acidosis and osteoporosis. Screening of siblings showed that his younger sister was also affected by the disease.