Genetic Counseling in Kidney Disease: A Perspective

Stein, Quinn; Westemeyer, Maggie; Darwish, Tarek; Pitman, Tessa; Hager, Meg; Tabriziani, Hossein; Curry, Kathryn J.; Collett, Kathleen; Raible, Darbey; Hendricks, Emily

doi:10.1016/j.xkme.2023.100668

Cited by 7 publications

(6 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Complete molecular mechanisms encompassing the structure and function of protein are difficult to identify from a single panel of genetic testing. Therefore, structural and functional protein studies may provide better evidence when the genetic mutation is not identified in standard testing [89][90][91]. Genetic testing would help plan or anticipate the natural course of illness, as in the present study CEP 290 mutation would have guided the clinicians and families for early renal replacement therapy or enrolling in renal transplant lists.…”

Section: Genetic Testingmentioning

confidence: 86%

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Grlić,

Gregurović,

Martinić

et al. 2024

Children

View full text Add to dashboard Cite

Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes. Aim: A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period. Methods and Materials: Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes. Results: During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet–Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0–31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0–141.0) months. The median follow-up duration in the cohort was 3.0 (1.0–7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation. Conclusion: This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD.

show abstract

Section: Genetic Testingmentioning

confidence: 86%

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Grlić,

Gregurović,

Martinić

et al. 2024

Children

View full text Add to dashboard Cite

show abstract

“… 17 , 27 , 28 Genetic counseling for a TBS diagnosis due to SALL1 variants should include discussion of autosomal dominant inheritance, variable expressivity, recurrence risk, reproductive planning, psychosocial ramifications of genetic diagnosis, patient resources, and cascade testing. 29 To inform the conversation, it is important to know if the SALL1 variant is inherited or de novo . Although the current study did not examine this, others have suggested that approximately 50% of individuals diagnosed with TBS result from de novo P/LP variants.…”

Section: Discussionmentioning

confidence: 99%

Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing

Stein,

Vostrizansky,

Magay

et al. 2024

Kidney International Reports

Self Cite

View full text Add to dashboard Cite

“…Genetic counsellors and clinical geneticists add value to the nephrology practitioner in many ways [21,22]:…”

Section: Importance Of Genetic Counseling and The Role Of Clinical Ge...mentioning

confidence: 99%

Genetic testing in the evaluation of recipient candidates and living kidney donors

Lee,

Thomas

2023

Current Opinion in Nephrology &Amp; Hypertension

View full text Add to dashboard Cite

Purpose of review The aim of this study is to provide an overview of the role of genetic testing in the evaluation of kidney transplant candidates and living donors who may be at risk for heritable kidney disease. We focus our discussion on monogenic diseases, excluding renal diseases that have complex polygenic influences. Adoption of new technologies such as next-generation sequencing (NGS) with comprehensive gene panels has greatly enabled access to genetic testing recently; yet transplant professionals rarely receive adequate training in clinical genetics. In addition to a broad discussion of genetic testing, we hope to illustrate the thought processes and resources used in clinical genetic evaluation of recipient candidates and donors. Recent findings Targeted renal genetic panels, whole exome and genome sequencing have greatly expanded our ability to test for pathogenic variants. Testing methods, analytic tools and the subsequent interpretation by the testing laboratory and treating physician impacts patient management and clinicians may lack the resources to practice in this new era of genomic medicine. Summary The expansion of genomics into transplant medicine can provide improved diagnosis in transplant candidates and potentially disease prediction in living donors. Transplant professionals need to be familiar with emerging trends, promises and limitations of NGS-based testing.

show abstract

Genetic Counseling in Kidney Disease: A Perspective

Cited by 7 publications

References 35 publications

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing

Genetic testing in the evaluation of recipient candidates and living kidney donors

Contact Info

Product

Resources

About