Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

Abstract

Abstract Background Hereditary hypophosphatasia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Case presentation To learn about the clinical presentation and treatment of the disease, we performed Clinical examinations, biochemical, radiological analyses and mutation analysis of SLC34A3 (exons and adjacent introns) of the proband and her members of the family. The proband and her affected sister are mutation of SLC34A3 ( exon 13 c.1402C༞T;p.R468W) disease-causing gene mutation. Her parents were both asymptomatic heterozygous carriers of the mutation. The genetic results also suggest that the patient has an LRP5 variant of Uncertain significance, which is a rare homozygous mutation. Conclusion This case is being reported to raise awareness of HHRH presenting characteristics. This paper describes a case of an autosomal recessive inheritance pattern in the context of SLC34A3 and LRP5 gene mutation, which has hitherto not been described in the context of the two genes at the same time. It is inconclusive whether the superposition of the two gene variants exacerbates clinical symptoms. This report provides an accurate diagnosis is critical, With early diagnosis and correct treatment, patients will have a better prognosis.