Still diagnosed too late and under-recognized? A first comprehensive report on primary hyperoxaluria from Poland

Sikora, Przemysław; Zaniew, Marcin; Grenda, Ryszard; Jobs, Katarzyna; Rubik, Jacek; Zawadzki, J; Myślak, Marek; Durlik, Magdalena; Erger, Florian; Bieniaś, Beata; Höppe, Bernd; Beck, Bodo B.

doi:10.20452/pamw.15698

Cited by 5 publications

(7 citation statements)

References 41 publications

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“…In relation to the current Polish population of about 38 million people, this number suggests a much lower cystinosis incidence in Poland than in Western countries. Interestingly, the similar epidemiological discrepancy we have recently found in relation to primary hyperoxaluria-the other, very rare monogenic disorder leading to ESKD [25].…”

Section: Discussionsupporting

confidence: 82%

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Nephropathic cystinosis in Poland: a 40-year retrospective study

Sikora¹,

Grenda²,

Kowalczyk³

et al. 2022

Polish Archives of Internal Medicine

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This is the first comprehensive report on nephropathic cystinosis (NC) from Poland. To date, the prevalence, clinical course, genetic background, treatment and outcome of this rare inherited metabolic disease was unknown in this country. The results of this study indicate that the prevalence of NC in Poland is much lower than in Western countries, and moreover its molecular background appears to be different. The latter is based on infrequent occurrence of the common 57-kb deletion, and higher proportion of other pathogenic variants of the CTNS gene, mainly c.18_c.21delGACT and c.681+1G>A. It should be noted that an unfavorable course in majority of Polish patients was caused by a historically limited accessibility to the specific cystine depletion therapy with cysteamine. Fortunately, better access to diagnostic and therapeutic procedures has significantly improved patients' care in recent years.

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Section: Discussionsupporting

confidence: 82%

“…). rhGH was not used in patients 12.1 and 12.2, however they showed a normal growth at25-50 and 10-25 percentiles at the current age of 13 and 11 years, respectively. Overall 3/13 INC patients died during the follow up.…”

mentioning

confidence: 99%

Nephropathic cystinosis in Poland: a 40-year retrospective study

Sikora¹,

Grenda²,

Kowalczyk³

et al. 2022

Polish Archives of Internal Medicine

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“…The next most common variants were c.569C>T (AF, 8%) and c.944-46delAGG (AF, 5.3%). Eleven novel pathogenic variants were identified (Table 2 5,6,[9][10][11][20][21][22][23][24][25][26][27][28][29] ).…”

Section: Diagnosismentioning

confidence: 99%

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

Martín-Higueras

Garrelfs²,

Groothoff³

et al. 2021

Kidney International

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“…To date, most genotypes identified in PH3 patients have not been associated with severe phenotypes. Sikora et al [35] found that all patients with c.700+5G>T retained normal renal function, and only one-third of these patients showed recurrent urolithiasis. Other common mutations (c.860G>T, c.944_946delAGG, and c.907C>T) in HOGA1 are also considered associated with milder phenotypes [36,37].…”

Section: Human Mutationmentioning

confidence: 99%

Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria

Ge,

Liu,

Zhan

et al. 2023

Human Mutation

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Primary hyperoxaluria (PH) is a rare monogenic disorder characterized by recurrent kidney stones, nephrocalcinosis, and renal impairment. To study the genotype and phenotype characteristics, we evaluated the clinical data of 42 Chinese pediatric PH patients who were diagnosed from May 2016 to April 2022. We found that patients with the PH3 type showed an earlier age of onset than those with the PH1 and PH2 types (1 versus 5 and 8 years, respectively, P < 0.001 ). Urine citrate was significantly lower in PH1 and PH2 patients than that in PH3 patients (91.81 and 85.56 versus 163.9 μg/mg, respectively, P = 0.044 ). Spot urine oxalate levels were slightly higher in PH1 than that in PH2 and PH3 patients (457.9 versus 182.38 and 309.14 μg/mg, respectively, P = 0.189 ). A significant negative correlation between the urine calcium/creatinine ratio and the oxalate/creatinine ratio was observed in the entire PH cohort ( r = − 0.360 , P = 0.04 ) and the PH3 cohort ( r = − 0.674 , P = 0.003 ). PH-causative genes showed hotspot mutations or regions, including c.815_816insGA and c.33dup in AGXT, 864_865del in GRHPR, and exon 6 skipping and c.769T>G in HOGA1. In the PH1 cohort, the estimated glomerular filtration rate (eGFR) was lowest in patients with heterozygous c.33dup. In the PH3 cohort, patients with heterozygous exon 6 skipping presented the lowest eGFR and a significant decrease in the renal survival advantage. In summary, PH1 patients exhibit much more severe phenotypes than those with other types. Hotspot mutations or regions exist in patients with all types of PH and show differences among ethnicities. Genotype-phenotype correlations are observed in PH1 and PH3.

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Still diagnosed too late and under-recognized? A first comprehensive report on primary hyperoxaluria from Poland

Cited by 5 publications

References 41 publications

Nephropathic cystinosis in Poland: a 40-year retrospective study

Nephropathic cystinosis in Poland: a 40-year retrospective study

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria

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