The Modern Metabolic Stone Evaluation in Children

Bevill, Mark D.; Kattula, Ambika; Cooper, Christopher S.; Storm, Douglas W.

doi:10.1016/j.urology.2016.09.058

Cited by 29 publications

(14 citation statements)

References 19 publications

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“…No evidence of urinary tract infection, proteinuria, or organic aciduria was found in our case, and serum electrolytes with urea and creatinine were essentially normal. An evaluation of urinary citrate, calcium, and 24 h urine output in future ILLD cases might be necessary in order to rule out factors that promote renal stone formation[ 14 ]. Mutations in genes encoding mitochondrial seryl-tRNA synthetases have been reported to cause renal damage[ 15 , 16 ], but no association of cytoplasmic aminoacyl-tRNA synthetases, including MARS , have been reported.…”

Section: Discussionmentioning

confidence: 99%

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

Abuduxikuer

Feng

et al. 2018

WJG

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Interstitial lung and liver disease (ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase (MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD (failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing novel phenotypes such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis. Whole exome sequencing revealed a novel truncating variant (c.2158C>T/p.Gln720Stop) together with a novel tri-nucleotide insertion (c.893_894insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene.

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Section: Discussionmentioning

confidence: 99%

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

Abuduxikuer

Feng

et al. 2018

WJG

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“…Urinary citrate prevents the formation of calcium oxalate crystals and stones. Hypocitraturia occurs in 19%–68% of patients with urolithiasis …”

Section: Discussionmentioning

confidence: 99%

Stoned—A Syndrome of D‐Lactic Acidosis and Urolithiasis

Berman

Merritt

2018

Nut in Clin Prac

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Short bowel syndrome (SBS) can lead to many complications related to the condition and its therapy. We describe 2 children with SBS who we believe are the second and third patients documented to have experienced both D-lactic acidosis and urolithiasis. We review aspects of these SBS complications and recent findings on the microbiome of patients with SBS that may predispose to these complications.

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“…Eine aktuelle Studie suggeriert zudem eine systematische Zunahme an idiopathisch bedingten Steinen bei metabolischem Syndrom [21]. Übergewichtigkeit und Adipositas sind in über einem Drittel der Betroffenen zu finden [21,22], wobei uni-und multivariable Analysen hier signifikant niedrige Urinvolumina und höhere Harnsäurewerte als Risikofaktoren aufweisen [21,22]. Inzidenzen werden fürs Kindes-und Jugendalter nicht angegeben, die vorhandenen Daten lassen einen Anstieg der Inzidenz in den Industriestaaten vermuten [13].…”

Section: Akuter Flankenschmerz Ohne Fieber Urolithiasisunclassified

Akute Flankenschmerzen im Kindes- und Jugendalter

Ebert¹

2017

Aktuel Urol

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The Modern Metabolic Stone Evaluation in Children

Cited by 29 publications

References 19 publications

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

Stoned—A Syndrome of D‐Lactic Acidosis and Urolithiasis

Akute Flankenschmerzen im Kindes- und Jugendalter

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