Dr Julia Donald1, Ms Caitlin Edmonson2, Dr Lok Chi Denise Chan2,3, Dr Clara Chung2,4, Dr Sean Kennedy1,2
1Nephrology, Sydney Children's Hospital, Randwick, Australia, 2Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia, 3Neurology, Sydney Children's Hospital, Randwick, Australia, 4Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia
Biography:
Bio to come
Background:
Tuberous Sclerosis Complex (TSC) is a multisystem condition caused by mutations of either TSC1 or TSC2 genes. Renal angiomyolipomas (AMLs) are common in TSC and can cause morbidity due to haemorrhage. Kidney cysts are also commonly seen in children with TSC, however these are usually small and are not recognised as problematic. A subset of patients have severe polycystic kidney disease due to a contiguous gene mutation involving PKD1and TSC2 on chromosome 16. End-stage kidney disease (ESKD) occurs commonly in patients with PKD1-TSC2 mutations but is otherwise rare.
We report a family with a TSC1 mutation. The father presented in adulthood with small cystic kidneys and progressed to ESKD. His two children have similar cystic changes.
Case Report:
The 34-year-old male presented with CKD3bA3 (eGFR 31mL/min; proteinuria 1.2gm/day) and hypertension. Ultrasound showed small cystic kidneys. Coincidentally, his 2-year-old daughter presented with seizures and had skin lesions and neurological signs consistent with TSC. Her 1-year-old brother also met TSC diagnostic criteria. Further investigations of the father showed typical skin lesions and cerebral tubers. Genetic testing identified a mutation in TSC1.
The father progressed to ESKD and has subsequently received a kidney transplant. His two children have similar renal ultrasounds with multiple small cysts; the son has small AMLs. Now aged 18 and 16 years, they have normal eGFR and no proteinuria.
Conclusions:
This family manifest a rarely described multicystic phenotype and TSC1 mutation. The father’s case demonstrates the risk of progressive kidney disease in TSC, even in the absence of AMLs or PKD1 mutations and highlights the importance of renal monitoring of all adults with TSC.