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Literature DB >> 29240373

Early Recognition and Management of Rare Kidney Stone Disorders.

Abstract

Kidney stones, especially those that present in childhood/adolescence, may be due to rare inherited disorders such as cystinuria. Early recognition and prompt treatment can help reduce or even prevent the serious long-term complications of these rare stone disorders.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2017 PMID： 29240373 PMCID： PMC5764757

Source DB: PubMed Journal: Urol Nurs ISSN： 1053-816X

45 in total

1. A survey evaluating the current role of the nurse practitioner in urology.

Authors: Susanne A Quallich
Journal: Urol Nurs Date: 2011 Nov-Dec

2. Febuxostat in adenosine phosphoribosyltransferase deficiency.

Authors: Margrét Arnadóttir
Journal: Am J Kidney Dis Date: 2014-06-03 Impact factor: 8.860

3. Medical treatment of cystinuria: results of contemporary clinical practice.

Authors: G K Chow; S B Streem
Journal: J Urol Date: 1996-11 Impact factor: 7.450

Review 4. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up.

Authors: Thomas Knoll; Antonia Zöllner; Gunnar Wendt-Nordahl; Maurice Stephan Michel; Peter Alken
Journal: Pediatr Nephrol Date: 2004-11-25 Impact factor: 3.714

5. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Authors: Guillaume Bollée; Cécile Dollinger; Lucile Boutaud; Delphine Guillemot; Albert Bensman; Jérôme Harambat; Patrice Deteix; Michel Daudon; Bertrand Knebelmann; Irène Ceballos-Picot
Journal: J Am Soc Nephrol Date: 2010-02-11 Impact factor: 10.121

6. Medical treatment of cystinuria: critical reappraisal of long-term results.

Authors: F Barbey; D Joly; P Rieu; A Méjean; M Daudon; P Jungers
Journal: J Urol Date: 2000-05 Impact factor: 7.450

7. An uncommon cause of acute kidney injury in young children: cystinuria.

Authors: Hulya Nalcacioglu; Ender Ozden; Gurkan Genc; Y Kamil Yakupoglu; Saban Sarikaya; Ozan Ozkaya
Journal: J Pediatr Urol Date: 2012-10-23 Impact factor: 1.830

8. Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.

Authors: S M van der Hoeven; C S van Woerden; J W Groothoff
Journal: Nephrol Dial Transplant Date: 2012-07-27 Impact factor: 5.992

9. The effect of sodium intake on cystinuria with and without tiopronin treatment.

Authors: A Lindell; T Denneberg; E Edholm; J O Jeppsson
Journal: Nephron Date: 1995 Impact factor: 2.847

10. The effect of dietary protein on cystine excretion in patients with cystinuria.

Authors: J S Rodman; P Blackburn; J J Williams; A Brown; M A Pospischil; C M Peterson
Journal: Clin Nephrol Date: 1984-12 Impact factor: 0.975

5 in total

Review 1. Cystinuria: genetic aspects, mouse models, and a new approach to therapy.

Authors: Amrik Sahota; Jay A Tischfield; David S Goldfarb; Michael D Ward; Longqin Hu
Journal: Urolithiasis Date: 2018-12-04 Impact factor: 3.436

2. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Authors: Ozge Ceyhan-Birsoy; Jaclyn B Murry; Kalotina Machini; Matthew S Lebo; Timothy W Yu; Shawn Fayer; Casie A Genetti; Talia S Schwartz; Pankaj B Agrawal; Richard B Parad; Ingrid A Holm; Amy L McGuire; Robert C Green; Heidi L Rehm; Alan H Beggs
Journal: Am J Hum Genet Date: 2019-01-03 Impact factor: 11.025