Abstract Context Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic disorder caused by activating CASR variants, characterized by hypocalcemia, low/normal parathyroid hormone, and hypercalciuria. While managed with conservative calcium targets to prevent renal damage, the long-term systemic burden remains...
Deepika Manoharan, E. Wong, Holly R. Mabillard et al.· Journal of the Endocrine Soc...· 0 citations
Introduction Polycystic kidney disease (PKD) is a condition that encompasses the development of multiple benign cysts in the kidneys and other organs. Hereditary PKD can be classified as autosomal dominant polycystic kidney disease (ADPKD) or autosomal recessive polycystic disease (ARPKD). These two forms differ primar...
Oqba Al-kuran, Reham Albadaineh, Adnan Almallah et al.· Case Reports in Obstetrics a...· 0 citations
BACKGROUND
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive tubulopathy caused by mutations in CLDN16 or CLDN19, leading to progressive chronic kidney disease. While kidney transplantation is the definitive treatment, the safety of using living-related heterozygous carrier...
Hakan Erdoğan, Mahmut Esat Danışoğlu, Hüseyin Çelik et al.· Pediatric Transplantation· 0 citations
BACKGROUND
Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive disorders characterized by impaired bile formation and secretion, frequently progressing to cirrhosis and end-stage liver disease. This study characterized the genotypic and phenotypic spectrum of PFIC in a pediatric cohor...
Manal Abdel Gawad, A. Mahfouz, M. Abdel-Hadi et al.· Pediatric Research· 0 citations
Infantile hypercalcemia type 1 (HCINF1) is a rare genetic disorder caused by pathogenic variants in the CYP24A1 gene, which encodes the vitamin D–catabolic enzyme 24-hydroxylase responsible for inactivating 1,25-dihydroxyvitamin D₃. The clinical presentation ranges from severe forms diagnosed in infancy—characterized b...
Nikolina Vucenovic Basic, B. Beck, A. Balasko et al.· Frontiers in Medicine· 0 citations
PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) is a rare autosomal dominant autoinflammatory disorder caused by mutations in the PSTPIP1 gene. In pediatric patients, arthritis often precedes cutaneous manifestations by several years, leading to frequent misdiagnosis as septic arthritis. Trea...
Shui-En He, Hao Deng, Jing-Hua Yang et al.· Frontiers in Immunology· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.