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Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature / Raquitismo dependente de vitamina D: tipo 1: série de casos de dois irmãos com mutação CYP27B1 e revisão da literatura
Dhull, Rachita Singh; Jain, Reena; Deepthi, Bobbity; Cheong, Hae II; Saha, Abhijeet; Mehndiratta, Mohit; Basu, Srikanta.
Affiliation
  • Dhull, Rachita Singh; Lady Hardinge Medical College and associated Kalawati Saran Children Hospital. Department of Pediatrics. Division of Pediatric Nephrology. New Delhi. IN
  • Jain, Reena; Lady Hardinge Medical College and associated Kalawati Saran Children Hospital. Department of Pediatrics. Division of Pediatric Nephrology. New Delhi. IN
  • Deepthi, Bobbity; Lady Hardinge Medical College and associated Kalawati Saran Children Hospital. Department of Pediatrics. Division of Pediatric Nephrology. New Delhi. IN
  • Cheong, Hae II; Seoul National University Childrens Hospital. Department of Pediatrics. Seoul. KR
  • Saha, Abhijeet; Lady Hardinge Medical College and associated Kalawati Saran Children Hospital. Department of Pediatrics. Division of Pediatric Nephrology. New Delhi. IN
  • Mehndiratta, Mohit; University College of Medical Sciences. Department of Biochemistry. New Delhi. IN
  • Basu, Srikanta; Lady Hardinge Medical College and associated Kalawati Saran Children Hospital. Department of Pediatrics. Division of Pediatric Nephrology. New Delhi. IN
J. bras. nefrol ; 42(4): 494-497, Oct.-Dec. 2020. tab
Article in En, Pt | LILACS | ID: biblio-1154624
Responsible library: BR1.1
ABSTRACT
Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.
RESUMO
Resumo Dois irmãos apresentaram características clínicas e bioquímicas do raquitismo, com suspeita clínica inicial de raquitismo hipofosfatêmico. Não houve melhora no início, portanto os irmãos foram reavaliados e, posteriormente, diagnosticados com raquitismo dependente de vitamina D (VDDR) tipo 1 devido a uma rara mutação no gene CYP27B1, que codifica a enzima 1a-hidroxilase. Ambos os irmãos melhoraram com a suplementação de calcitriol. A apresentação inicial do VDDR geralmente é confusa e a avaliação algorítmica ajuda no diagnóstico. Também apresentamos uma breve revisão da literatura, incluindo genética.
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Full text: 1 Index: LILACS Main subject: Familial Hypophosphatemic Rickets / 25-Hydroxyvitamin D3 1-alpha-Hydroxylase Limits: Humans Language: En / Pt Journal: J. bras. nefrol Journal subject: NEFROLOGIA Year: 2020 Type: Article

Full text: 1 Index: LILACS Main subject: Familial Hypophosphatemic Rickets / 25-Hydroxyvitamin D3 1-alpha-Hydroxylase Limits: Humans Language: En / Pt Journal: J. bras. nefrol Journal subject: NEFROLOGIA Year: 2020 Type: Article