☆ 4.5 Article

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Lowe Syndrome

CHILDREN-BASEL (2023)

Clinical and genetic characteristics of Dent's disease type 1 in Europe

Carla Burballa et al.

Summary: DD1 is a rare X-linked nephropathy caused by CLCN5 mutations, characterized by proximal tubule dysfunction. Current management is symptomatic and does not prevent disease progression. This study investigated the clinical features and mutation spectra of DD1 patients in Europe, highlighting the unmet needs in diagnosis and treatment.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2023)

添加到收藏夹

Article Genetics & Heredity

Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms

Cecilia Sena et al.

Summary: Lowe syndrome, an X linked genetic disorder, is characterized by congenital cataract, cognitive/behavioural impairment, and renal tubulopathy. This retrospective study analyzed the clinical features of 137 LS patients, revealing common characteristics such as short stature, undescended testis, and dental problems. The study also found that OCRL is expressed in the hypothalamus and pituitary, and is associated with various neuropeptides.

JOURNAL OF MEDICAL GENETICS (2022)

添加到收藏夹

Review Pediatrics