Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening

Piñero‐Fernández, Juan Alberto; Vicente-Calderón, Carmen; Lorente-Sánchez, María José; Juan-Fita, María Jesús; Egea-Mellado, José María; González-Gallego, Inmaculada C.

doi:10.1007/s00467-022-05732-w

Cited by 4 publications

(4 citation statements)

References 36 publications

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“…Thus, excessive urinary cystine level seems to be the primary driver of nephrolithiasis in our cohort. Other groups have found a correlation between hypercalciuria and the risk of nephrolithiasis in cystinuria patients [9 ▪ ,11].…”

Section: Discussionmentioning

confidence: 92%

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Unraveling the natural history of presymptomatic cystinuria

Tokhmafshan

Goodyer

2023

Current Opinion in Nephrology &Amp; Hypertension

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Purpose of review Servais et al. recently published clinical practice recommendations for the care of cystinuria patients. However, these guidelines were largely based on retrospective data from adults and children presenting with stones. Significant questions remain about the natural history of cystinuria in presymptomatic children. Recent findings We review the natural history of cystinuria in presymptomatic children followed from birth. In total, 130 pediatric patients were assigned putative genotypes based on parental urinary phenotype: type A/A (N = 23), B/B (N = 6), and B/N (N = 101). Stones were identified in 12/130 (4% of A/A, 17% of B/B, and 1% of B/N patients). Type B/B patients had lower cystine excretion than type A/A patients. Although urine cystine/creatinine fell with age, urine cystine/l rose progressively in parallel with the risk of nephrolithiasis. Each new stone was preceded by 6–12 months of urine specific gravity of more than 1.020. However, average urine specific gravity and pH were not different in stone formers vs. nonstone formers, suggesting that intrinsic stone inhibitors or other unknown factors may be the strongest determinants of individual risk. Summary The current study reviews the clinical evolution of cystinuria in a cohort of children identified by newborn screening, who were categorized by urinary phenotype and followed from birth.

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Section: Discussionmentioning

confidence: 92%

“…About 10% of our cohort developed one or more stones during the pediatric period. Pinero-Fernandez et al [9 ▪ ] recently reported their experience with another cystinuria cohort diagnosed via a newborn screening program in Murcia, Spain. They were able to assign urinary phenotype in 10 type A/A and 14 type B/B, and 39 type B/N children.…”

Section: Discussionmentioning

confidence: 99%

Unraveling the natural history of presymptomatic cystinuria

Tokhmafshan

Goodyer

2023

Current Opinion in Nephrology &Amp; Hypertension

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“…Singh and colleagues [5] noted that symptomatic recurrence at 10 years was approximately 50% for brushite, struvite, and uric acid but approximately 30% for calcium oxalate and hydroxyapatite stones (P < .001). Patients with cystine stones can have an episode of stone requiring intervention almost every year or even more frequently [6]. Moreover, patients with a greater number and size of stones at first presentation and those with bilateral stones are more likely to experience recurrence of the disorder.…”

Section: Some Other Factorsmentioning

confidence: 99%

Stone Prevention: Dietary Factors, Current Evidence, and Metabolic Workup

Aziz,

Bashir,

Hammad Ather

2023

Nephrolithiasis - From Bench to Bedside

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Urolithiasis is a highly recurrent disease. The incidence of urolithiasis is on the rise. Although stone prevention is highly desirable, there is significant controversy and lack of quality evidence to suggest a standard approach to prevention. In the current chapter, we have looked at the contemporary evidence, lack of long-term compliance, and various dietary and pharmacological treatment options for prevention of recurrent stone disease.

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“…As a result of the variations in NBS across the country, several reports since 2020 have reviewed the history and status of various regional screening successes: 50 years of NBS in Catalonia [1003]; 20 years of NBS in Galicia [1004]; 10 years of NBS in Western Andalusia [1005]; 15 years of NBS for SCD in Madrid [1006]; 3 years of NBS for SCD in Western Andalusia [1007]; screening for propionic, methylmalonic acidemia and vitamin B 12 deficiency in Madrid [1008]; 3 years' experience in NBS for SCID in Catalonia [1009,1010]; 8 years' experience with expanded NBS in Madrid [1011]; evaluation of positive cases from NBS in Madrid [1012]; CAH screening in Madrid [1013]; CH cutoff values in the Balearic Islands [1014]; the role of public health in NBS success in the Basque Country [1015]; and, an improved specimen transport system in Catalonia [1016]. Reports have also addressed issues related to second-tier testing to detect cobalamin (vitamin B 12 )-related disorders, both genetic and acquired [1017], differences in IRT levels between the different groups of newborns with a positive screen (healthy, healthy carriers, affected by CF or CFSPID) [1018], and the potential usefulness of NBS in detecting cystinuria [1019].…”

mentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening

Cited by 4 publications

References 36 publications

Unraveling the natural history of presymptomatic cystinuria

Unraveling the natural history of presymptomatic cystinuria

Stone Prevention: Dietary Factors, Current Evidence, and Metabolic Workup

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

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