Recommendations for the management of renal involvement in tuberous sclerosis complex

Ariceta, Gema; Buj, María José; Furlano, Mónica; Martínez, Víctor; Matamala, Anna; Morales, Montserrat; Robles, Nicolás Roberto; Sans, Laia; Villacampa, Felipe; Torrá, Roser

doi:10.1016/j.nefroe.2020.03.009

Cited by 3 publications

(3 citation statements)

References 48 publications

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“…Therefore, it remains crucial to correctly diagnose HTN in pediatric CyKD [72]. The prevalence of HTN in patients with TSC who are under the age of 25 can be as high as 25% [73]. Similarly, one-third of patients with BBS may experience HTN [37].…”

Section: Hypertensionmentioning

confidence: 99%

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

Grlić,

Gregurović,

Martinić

et al. 2024

Children

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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.

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Section: Hypertensionmentioning

confidence: 99%

“…In our study, all the individuals in the BBS, TSC, and JS groups had HTN. Among patients with TSC, there is a notable association between HTN and mutations in the TSC2 gene, especially in those diagnosed with TSC2/PKD1-CGS [73][74][75]. Approximately 2-5% of patients harbor combination mutations TSC2/PKD1 [76].…”

Section: Hypertensionmentioning

confidence: 99%

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

Grlić,

Gregurović,

Martinić

et al. 2024

Children

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“…TSC is a neurocutaneous disorder characterized by tumors of the brain, skin, heart, lungs, and kidneys as well as seizures. Angiomyolipomas are benign renal tumors derived from endothelial cells, which are composed of adipose tissue, smooth muscle, and blood vessels (76). Angiomyolipomas are seen in 55-80% of patients with TSC.…”

Section: Tuberous Sclerosis Complex (Tsc)mentioning

confidence: 99%

Genitourinary manifestations of hereditary cancer predisposition syndromes in children

Gillespie

Mater

2020

Transl Androl Urol

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Predispostion to Wilms tumorWilms tumor, or nephroblastoma, represents ~90% of all pediatric renal tumors (5) and affects 1:10,000 children less than 15 years of age (6). Wilms tumor is an embryonal tumor that arises in a kidney cell with pluripotent differentiation potential. Most cases are unilateral (95%), sporadic, and curable with nephrectomy. Chemotherapy and radiation are also utilized in certain situations. In contrast, Wilms tumor associated with a cancer predisposition syndrome tends to occur at an earlier age and is more often associated with bilateral disease. The median age of diagnosis of patients with a Wilms tumor is 38 months, Review Article on Pediatric Urologic Malignancies

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Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II

Klein Haneveld,

Hieltjes,

Langendam

et al. 2024

Genetics in Medicine

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Recommendations for the management of renal involvement in tuberous sclerosis complex

Cited by 3 publications

References 48 publications

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

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

Genitourinary manifestations of hereditary cancer predisposition syndromes in children

Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II

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