Premium
A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy
Author(s) -
Pan Xiaoyu,
Yang Chengqing,
Ma Shaochun,
Wang Weihong,
Liu Peipei,
Guo Ya,
Liu Yedan,
Song Jie,
Wu Sifei,
Yi Liping,
Wei Wei,
Chen Zongbo
Publication year - 2021
Publication title -
international journal of developmental neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.761
H-Index - 88
eISSN - 1873-474X
pISSN - 0736-5748
DOI - 10.1002/jdn.10088
Subject(s) - tuberous sclerosis , pkd1 , tsc2 , medicine , polycystic kidney disease , disease , epilepsy , autosomal dominant polycystic kidney disease , kidney disease , renal function , pathology , bioinformatics , pediatrics , biology , genetics , pi3k/akt/mtor pathway , apoptosis , psychiatry
Polycystic kidney disease with Tuberous sclerosis is a disease caused by the deletions of the TSC2‐PKD1 gene. The disease is rarely reported and the characterized manifestation is severe polycystic kidney growth. The diagnosis can be made by molecular analysis. We report the first case of PKDTS discovered in infancy in China with typical neurological and renal manifestations. The patient has infantile spasm, polycystic kidney, skin damage, hypertension, and hematuria after infection. After effective treatment of Rapamycin, the seizures were completely controlled. There was not been any renal function damage in the patient. At the same time, we review the related literature and further elaborate on the variety of clinical manifestations, treatment, and prognosis.