Poor renal uptake of99mtechnetium-dimercaptosuccinic acid and near-normal99mtechnetium-mercaptoacetyltriglycine renogram in nephronophthisis

Hecht, Helmut; Ohlsson, Jan; Starck, Sven-Åke

doi:10.1007/bf00862063

Cited by 5 publications

(4 citation statements)

References 4 publications

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“…Poor accumulation of 99mTc-DMSA in the kidneys with high bladder content of the radionuclide was also found in a total of seven patients with Lowe syndrome and three Dent-2 disease cases [124,125]. A similar abnormal radionucleotide distribution could be detected in other tubular disorders, like Fanconi syndrome, distal renal tubular acidosis and nephronophtisis, even in case of a normal GFR [126][127][128]. There is still uncertainty how 99mTc-DMSA reaches the bladder since its handling is very complex in the kidneys: it is filtered via the glomerulus and taken up from both the brush border and basolateral membrane of renal tubular cells, in a cotransporter mode together with sodium [129,130].…”

Section: Poor Renal Accumulation Of Technetium-99mentioning

confidence: 53%

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

2015

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The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a renal proximal tubulopathy in almost all of the patients. Whereas the ocular manifestations and severe hypotonia are present at birth, the renal involvement appears within the first months of life. Patients show progressive growth retardation and may develop a debilitating arthropathy. Treatment is symptomatic and life span rarely exceeds 40 yr. The causative OCRL gene, encodes an inositol polyphosphate 5-phosphatase. OCRL mutations were not only found in classic Lowe syndrome, but also in milder affected patients, classified as having Dent-2 disease. There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of enzyme function. Researchers have conducted a large amount of work to understand the etiology responsible for the disease. However, the mechanisms leading to the clinical manifestations are still poorly understood and we are far from an effective therapy. In this review, we have included well-established findings and the most recent progress in understanding Lowe syndrome and Dent-2 disease.

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Section: Poor Renal Accumulation Of Technetium-99mentioning

confidence: 53%

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

2015

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“…Poor visualization of the kidneys may be explained by the failure to extract the tracer from the blood or excretion into the tubular lumen. A similarly abnormal Tc-99m DMSA pattern has been described in other tubular diseases, such as Fanconi syndrome, distal renal tubular acidosis, and nephronophthisis [25][26][27]. One may raise the question of whether vivid tubular excretion of Tc-99m DMSA is linked to abnormal recycling of megalin and cubilin.…”

Section: Discussionmentioning

confidence: 97%

Clinical and laboratory features of Macedonian children with OCRL mutations

Tasic

Lozanovski

Korneti³

et al. 2011

Pediatr Nephrol

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OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene. Two children (18 months and 11 years, respectively) were diagnosed with Lowe syndrome on the basis of congenital cataracts, severe psychomotor retardation, and renal dysfunction. Both children had low molecular weight proteinuria (LMWP) and hypercalciuria, but not Fanconi syndrome. The older one had bilateral nephrolithiasis due to associated hypocitraturia and mild hyperoxaluria. Three children with asymptomatic proteinuria were diagnosed with Dent-2 disease; none had cataracts or neurological deficit. One child showed mild mental retardation. All had LMWP, hypercalciuria, and elevated enzymes (creatine phosphokinase, lactic dehydrogenase). All three children had an abnormal Tc-99m DMSA scan revealing poor visualization of the kidneys with a high radionuclide content in the bladder; none had nephrolithiasis or nephrocalcinosis. In conclusion, children with OCRL mutations may present with very mild phenotype (asymptomatic proteinuria with/without mild mental retardation) or severe classic oculocerebrorenal syndrome of Lowe. Elevated enzymes and abnormal results on the Tc-99m DMSA scan may be useful indicators for Dent-2 disease.

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“…Poor renal uptake of 99m Tc-DMSA has been observed in patients with various renal tubular disorders, including Dent disease and Lowe syndrome, even when there is a normal glomerular filtration rate [13][14][15][16][17][18][19][20]. Both diseases are characterized by proximal tubular dysfunction, including low molecular weight (LMW) proteinuria.…”

Section: Introductionmentioning

confidence: 99%

Decreased renal uptake of 99mTc-DMSA in patients with tubular proteinuria

Lee

Choi

et al. 2009

Pediatr Nephrol

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Although technetium-99m-dimercaptosuccinic acid ((99m)Tc-DMSA) renal scans are widely used to evaluate renal tubular mass function, the mechanism by which renal uptake of DMSA occurs is still the subject of debate. Patients with various proximal tubular disorders show markedly decreased renal DMSA uptake, even when there is normal creatinine clearance. We measured the renal uptake of (99m)Tc-DMSA 3 h after its injection in 13 patients with Dent disease or Lowe syndrome, both of which are typical proximal tubular disorders with defective megalin and cubilin-mediated endocytosis. Serial images of three patients were also obtained at 0.5, 1, 2 and 3 h post-injection. The correlations between renal uptake of (99m)Tc-DMSA and creatinine clearance and the degrees of acidemia and tubular proteinuria were then evaluated. The renal uptake of (99m)Tc-DMSA was markedly decreased in all patients, and the decreased uptake was detected in all serial images. In contrast, bladder radioactivity was higher than normal in all of the serial images when compared to renal radioactivity. Additionally, the uptake of (99m)Tc-DMSA was inversely proportional to the amount of urine beta(2)-microglobulin. These results strongly suggest that DMSA is filtered in the glomeruli and subsequently undergoes megalin- and cubilin-mediated endocytosis in the proximal tubules.

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Poor renal uptake of99mtechnetium-dimercaptosuccinic acid and near-normal99mtechnetium-mercaptoacetyltriglycine renogram in nephronophthisis

Cited by 5 publications

References 4 publications

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

Clinical and laboratory features of Macedonian children with OCRL mutations

Decreased renal uptake of 99mTc-DMSA in patients with tubular proteinuria

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