Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement

Gambaro, Giovanni; Croppi, Emanuele; Coe, Fredric L.; Lingeman, James E.; Moe, Orson W.; Worcester, E. M.; Buchholz, Noor; Bushinsky, David A.; Curhan, Gary C.; Ferraro, Pietro Manuel; Fuster, Daniel; Goldfarb, David S.; Heilberg, Ita Pfeferman; Hess, B; Lieske, John C.; Marangella, Martino; Milliner, Dawn S.; Preminger, Glenn M.; Santos, Jose’ Manuel Reis; Sakhaee, Khashayar; Sarıca, Kemal; Siener, Roswitha; Strazzullo, Pasquale; Williams, James C.

doi:10.1007/s40620-016-0329-y

Cited by 130 publications

(89 citation statements)

References 143 publications

(120 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In fact, properly recognizing Randall's plaque residue in a CaOx stone gives very important and useful pathogenic and diagnostic clues [11]. However, this is not accepted by all, and thus, the idiopathic nature of the CaOx nephrolithiasis still requires a full diagnostic workup [12]. e second case (#119) was a stone made of struvite, a structure which forms in an alkaline milieu that also favors carboapatite crystallization.…”

Section: Discussionmentioning

confidence: 99%

Improvement of Urinary Stones Analysis Combining Morphological Analysis and Infrared Spectroscopy

Gervasoni

Primiano

Ferraro

et al. 2018

Journal of Chemistry

Self Cite

View full text Add to dashboard Cite

Daudon et al. have developed a complex morphoconstitutional classification of renal stone in six different morphological types and several subtypes. According to this classification, a precise correspondence exists between causes of renal stones and subtypes with a great clinical relevance and can be considering a sort of shortcut for the metabolic diagnosis in renal stone patients. Now the diagnosis of causes of renal stones generally requires repeated biochemical investigations on urine and blood samples and usually remains presumptive. We analyzed 150 urinary stones both by stereoscopic microscopy and Fourier transform infrared spectroscopy. e comparison of 150 stones did not reveal any disagreement. We have only 20 partial agreement, and clinicians agreed that the imprecise information obtained with morphological analysis alone would have missed an important clinical finding only in 3 cases. In conclusion, in our opinion, the analysis of urinary stone must combine two different analytical techniques: morphological analysis by stereomicroscope and biochemical analysis with the FT-IR.

show abstract

Section: Discussionmentioning

confidence: 99%

Improvement of Urinary Stones Analysis Combining Morphological Analysis and Infrared Spectroscopy

Gervasoni

Primiano

Ferraro

et al. 2018

Journal of Chemistry

Self Cite

View full text Add to dashboard Cite

show abstract

“…[25] These idiopathic CaOx stone formers were entered into our research study on the influence of urine macromolecules on crystal aggregation following informed consent (VA-IRB approved study: 9305-01P).…”

Section: Concise Methodsmentioning

confidence: 99%

“…In this study, we compare the proteomes observed in random, mid-morning urine samples between idiopathic CaOx stone formers (as defined by the absence of predisposing medical conditions or ingestions)[25] and a matching control (normal) population, using label-free spectral counting mass spectrometry (MS) methods and subsequent bioinformatics analysis to identify possible differences in abundant urine proteins. No differences were observed in the most abundant individual proteins, though small differences were detected in some moderate abundance proteins.…”

Section: Introductionmentioning

confidence: 99%

Stone former urine proteome demonstrates a cationic shift in protein distribution compared to normal

et al. 2017

View full text Add to dashboard Cite

Many urine proteins are found in calcium oxalate stones, yet decades of research have failed to define the role of urine proteins in stone formation. This urine proteomic study compares the relative amounts of abundant urine proteins between idiopathic calcium oxalate stone forming and non-stone forming (normal) cohorts to identify differences that might correlate with disease. Random mid-morning urine samples were collected following informed consent from 25 stone formers and 14 normal individuals. Proteins were isolated from urine using ultrafiltration. Urine proteomes for each sample were characterized using label-free spectral counting mass spectrometry, so that urine protein relative abundances could be compared between the two populations. A total of 407 unique proteins were identified with the 38 predominant proteins accounting for >82% of all sample spectral counts. The most highly abundant proteins were equivalent in stone formers and normals, though significant differences were observed in a few moderate abundance proteins (immunoglobulins, transferrin, and epidermal growth factor), accounting for 13% and 10% of the spectral counts respectively. These proteins contributed to a cationic shift in protein distribution in stone formers compared to normals (22% vs. 18%, p = 0.04). Our data showing only small differences in moderate abundance proteins suggest that no single protein controls stone formation. Observed increases in immunoglobulins and transferrin suggest increased inflammatory activity in stone formers, but cannot distinguish cause from effect in stone formation. The observed cationic shift in protein distribution would diminish protein charge stabilization, which could lead to protein aggregation and increased risk for crystal aggregation.

show abstract

“…14 However, recent studies and case reports reveal that genetic testing can uncover complete or incomplete primary dRTA when it remains clinically imperceptible or difficult to diagnose. 6,10 Therapeutic implications for stone patients with dRTA include alkali administration, referral for audiometry testing and monitoring for CKD.…”

Section: Monogenic Causes Of Stone Diseasementioning

confidence: 99%

Personalized Intervention in Monogenic Stone Formers

et al. 2018

Self Cite

View full text Add to dashboard Cite

Purpose Treatment of a first-time renal stone consists of acute management followed by medical efforts to prevent stone recurrence. Although nephrolithiasis is roughly 50% heritable, the presence of a family history usually does not affect treatment since most stone disease is regarded as polygenic, ie not attributable to a single gene. Recent evidence has suggested that single mutations could be responsible for a larger proportion of renal stones than previously thought. This intriguing possibility holds the potential to change the management paradigm in stone prevention from metabolically directed therapy to more specific approaches informed by genetic screening and testing. This review synthesizes new findings concerning monogenic kidney stone disease, and provides a concise and clinically useful reference for monogenic causes. It is expected that increased awareness of these etiologies will lead to increased use of genetic testing in recurrent stone formers and further research into the prevalence of monogenic stone disease. Materials and Methods We assembled a complete list of genes known to cause or influence nephrolithiasis based on recent reviews and commentaries. We then comprehensively searched PubMed® and Google Scholar™ for all research on each gene having a pertinent role in nephrolithiasis. We determined which genes could be considered monogenic causes of nephrolithiasis. One gene, ALPL, was excluded since nephrolithiasis is a relatively minor aspect of the disorder associated with the gene (hypophosphatasia). We summarized selected studies and assembled clinically relevant details. Results A total of 27 genes were reviewed in terms of recent findings, mode of inheritance of stone disease, known or supposed prevalence of mutations in the general population of stone patients and specific therapies or considerations. Conclusions There is a distinct opportunity for increased use of genetic testing to improve the lives of pediatric and adult stone patients. Several genes first reported in association with rare disease may be loci for novel mutations, heterozygous disease and forme frustes as causes of stones in the broader population. Cases of idiopathic nephrolithiasis should be considered as potentially having a monogenic basis.

show abstract

Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement

Cited by 130 publications

References 143 publications

Improvement of Urinary Stones Analysis Combining Morphological Analysis and Infrared Spectroscopy

Improvement of Urinary Stones Analysis Combining Morphological Analysis and Infrared Spectroscopy

Stone former urine proteome demonstrates a cationic shift in protein distribution compared to normal

Personalized Intervention in Monogenic Stone Formers

Contact Info

Product

Resources

About