A clinical case of surgical treatment of a large kidney cyst in a 9-year-old girl with autosomal dominant polycystic kidney disease DOI Open Access

A. A. Оganisyan,

Artem S. Vrublevskiy,

R. Yu. Valiev

и другие.

Russian Journal of Pediatric Surgery, Год журнала: 2023, Номер 27(6), С. 462 - 469

Опубликована: Дек. 26, 2023

BACKGROUND: Autosomal dominant polycystic kidney disease is currently the most common inherited form of cystic disease, frequency which about 1 per 400–1000 newborns, what makes problem relevant. Its progressive course in patients with primarily associated ischemic component, severity depends on number, location and size cysts. Arterial hypertension, an autosomal complication, plays a leading role renal failure progression. Given current lack specific treatment, main therapeutic goal to prevent complications, postpone development failure. Therefore, if there are large giant cysts, surgical treatment effective modality should be performed timely manner. CLINICAL CASE DESCRIPTION: The authors present clinical case successful endovideosurgical cyst excision -year-old patient right kidney, hypertension genesis. Endovideosurgical cystectomy has become important pathogenetic link this pathology. Currently, under dynamic follow-up for more than one year. During period, demonstrates relief urinary syndrome disappeared haematuria, stabilization albuminuria indices, improvement blood flow parameters parenchyma, as well arterial pressure. CONCLUSION: given example that reasonable intervention choice rational method access, taking into account anatomical localization formation, allowed obtain good result hemodynamics disease.

Язык: Английский

A new era in the science and care of kidney diseases DOI
Carmine Zoccali, Francesca Mallamaci, Liz Lightstone

и другие.

Nature Reviews Nephrology, Год журнала: 2024, Номер 20(7), С. 460 - 472

Опубликована: Апрель 4, 2024

Язык: Английский

Процитировано

11

The hidden pharmacokinetic challenge: diarrhea’s influence on cyclosporine therapy: a case series DOI Open Access

Riya Mary Richard,

Jefry Winner G,

Ann Mary Shaibu

и другие.

Annals of Medicine and Surgery, Год журнала: 2025, Номер 87(2), С. 466 - 470

Опубликована: Янв. 18, 2025

Язык: Английский

Процитировано

1

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique DOI
Jessica Kachmar, Hassan Saei, Vincent Morinière

и другие.

American Journal of Kidney Diseases, Год журнала: 2025, Номер unknown

Опубликована: Янв. 1, 2025

Язык: Английский

Процитировано

1

Autosomal dominant tubulointerstitial kidney disease: A review DOI Creative Commons
Martina Živná, Kendrah Kidd, Veronika Barešová

и другие.

American Journal of Medical Genetics Part C Seminars in Medical Genetics, Год журнала: 2022, Номер 190(3), С. 309 - 324

Опубликована: Сен. 1, 2022

The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic (CKD) with many patients reaching end stage renal (ESRD) between age 20 and 70 years, inheritance. Due to advances in genetic diagnosis, ADTKD is becoming increasingly recognized as a cause CKD. Pathogenic variants UMOD, MUC1, REN are the most common causes ADTKD. ADTKD-UMOD also associated hyperuricemia gout. ADTKD-REN often presents childhood mild hypotension, CKD, hyperkalemia, acidosis, anemia. ADTKD-MUC1 present only This review describes pathophysiology, genetics, manifestation, diagnosis for ADTKD, an emphasis on testing counseling suggestions patients.

Язык: Английский

Процитировано

17

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis DOI Creative Commons

Elhussein A. Elhassan,

Tereza Kmochová, Katherine A. Benson

и другие.

Kidney International Reports, Год журнала: 2024, Номер 9(7), С. 2209 - 2226

Опубликована: Апрель 15, 2024

Monoallelic variants in the

Язык: Английский

Процитировано

3

Biomarkers in Autosomal Dominant Tubulointerstitial Kidney Disease DOI
Mengshi Li, Lei Jiang,

Zhiying Liu

и другие.

Integrative Medicine in Nephrology and Andrology, Год журнала: 2025, Номер 12(1)

Опубликована: Март 1, 2025

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is increasingly recognized as a significant contributor to chronic (CKD), attributed mutations in at least five genes: UMOD, MUC1, HNF1B, REN, and SEC61A1 . ADTKD typically presents slowly progressive CKD with variable clinical features such hyperuricemia tubular proteinuria, complicating its diagnosis. The often undiagnosed until advanced stages due insidious onset nonspecific indicators. This review synthesizes current knowledge on the manifestations, pathological features, emerging biomarkers of ADTKD, emphasizing complexity heterogeneity disease. Treatment options are limited, most approaches focus controlling blood pressure, uric acid levels, anemia delay failure, uncertain efficacy slowing progression. Integrative strategies, including traditional Chinese medicine (TCM), have shown promise mitigating core processes renal interstitial fibrosis may offer complementary avenue improve patient outcomes. Effective remain crucial for early diagnosis personalized interventions, future integration genomics, proteomics, metabolomics warranted reveal biological networks molecular mechanisms identifying new potential therapeutic targets.

Язык: Английский

Процитировано

0

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic DOI Open Access
Clara Schott, Mohammad Alajmi,

Mohammad O. Bukhari

и другие.

Genes, Год журнала: 2025, Номер 16(4), С. 408 - 408

Опубликована: Март 31, 2025

Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% cases kidney disease (CKD). Confirming a genetic diagnosis can influence management; however, the utility testing older adults remains poorly understood, partly due to age-based restrictions on access. To better evaluate diagnostic yield clinical this population, we analyzed data from aged ≥50 years with CKD who were assessed specialized genetics clinic. Methods: We studied cohort 125 at time testing. included gene panels targeting disease-related genes based phenotype, and/or exome sequencing additional monogenic if initial panel was inconclusive. Results: Pathogenic variants identified 38% patients. The highest (48%) patients 50–54 years. most common post-testing glomerulopathies (32%). Clinical utility, shown through case series, modifications treatment management, as well reduction odyssey. Conclusions: Our findings dedicated Kidney Genetics Clinic show that has significant utility. These results support guideline recommendations there should be no upper age limit Future research unselected populations is needed establish broader applicability feasibility adults.

Язык: Английский

Процитировано

0

Contemporary Perspectives on Chronic Renal Disorders DOI Creative Commons

Deenadhayalan Ashok,

Poornima Manjrekar,

Bhushan C. Shetty

и другие.

Chronic Diseases and Translational Medicine, Год журнала: 2025, Номер unknown

Опубликована: Апрель 17, 2025

Язык: Английский

Процитировано

0

Genetic Counseling in Kidney Disease: A Perspective DOI Creative Commons
Quinn Stein, Maggie Westemeyer,

Tarek Darwish

и другие.

Kidney Medicine, Год журнала: 2023, Номер 5(7), С. 100668 - 100668

Опубликована: Май 15, 2023

As genetic testing is increasingly integrated into nephrology practice there a growing need for partnership with experts. Genetic counselors are ideally suited to fill this role. The value of counseling born out the clinical test results against backdrop complexity testing. who specialize in trained understand and explain potential effects genes on kidney disease, which can enable patients make informed decisions about proceeding testing, navigating variants uncertain significance, educating extrarenal features hereditary facilitating cascade providing post-test education results, assisting family planning. partner nephrologist provide knowledge needed maximize use consultation. more than an element or extension testing; it dynamic, shared conversation between patient counselor where concerns, sentiments, information, exchanged, value-based decision making facilitated.

Язык: Английский

Процитировано

7

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis DOI Creative Commons
Tereza Kmochová, Kendrah Kidd, Andrew Orr

и другие.

Kidney International, Год журнала: 2023, Номер 105(4), С. 799 - 811

Опубликована: Дек. 12, 2023

Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to autosomal dominant due two different pathogenic APOA4 variants. A large family with chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing identification a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.L66V ApoA4 protein. We identified other distantly related from our registry same chr11:116693454 C>T p.D33N. Both mutations are unique affected families, evolutionarily conserved predicted expand amyloidogenic hotspot in structure. Clinically individuals suffered CKD mean age for failure 64.5 years. Genotyping 48 genetically individuals; 44 had an estimated glomerular filtration rate (eGFR) under 60 ml/min/1.73 m

Язык: Английский

Процитировано

7