![]() ![]() If bowing continues to progress in a child with infantile Blount's disease despite the use of a brace, surgery will be needed by the age of 4 years. If the deformity is severe enough, then surgery to correct the remaining bowing-usually by guided growth-may be needed.īlount's disease. In rare instances, physiologic genu varum in the toddler will not completely resolve and during adolescence, the bowing may cause the child and family to have cosmetic concerns. The effects of rickets can often be controlled with medication. ![]() ![]() If your child has rickets, your doctor will refer you to a metabolic specialist for medical management, in addition to regular orthopaedic follow-up. Bracing is not effective, however, for adolescents with Blount's disease. If the disease is caught early, treatment with a brace may be all that is needed. Infantile Blount's disease does require treatment for the bowing to improve. Although physiologic genu varum does not require active treatment, your doctor will want to see your child every 6 months until the bowing has resolved.īlount's disease. Mild bone phenotypes as a child that resolved spontaneously and an absence of hypercalciuria and renal calcifications in the first case, and presence of nephrocalcinosis with early onset renal failure in the second case illustrate the high degree of phenotypic variability caused by SLC34A3 mutations and suggest a polygenic contribution to disease severity.Courtesy of Texas Scottish Rite Hospital for Children Nonsurgical Treatment The first case is the second report of di-genic heterozygous mutations in SLC34A1 and SLC34A3, and the second case is the first report of di-genic mutations in SLC34A3 and NPHP4. The second patient possesses a known pathogenic .575C>T,p.S192L variant, consistent with a diagnosis of HHRH, and a cis-inherited .2579G>A,p.G860E c.133C>T,p.Q45X variant. Whole exome sequencing of the first patient revealed a novel .847G>A,p.G292S and a previously reported pathogenic het.SLC34A3c.1402C>T,p.R468W variant. She is of normal stature without pathologic fractures, and physical examination was notable for mild knee knock consistent with a history of mild childhood rickets. At age 19, she was found to have an elevated creatinine of 1.3 mg/dL and diagnosed with mild hypertension, and she was treated with lisinopril and hydrochlorothiazide. Renal ultrasound at this age revealed bilateral nephrocalcinosis, and she was started on potassium citrate. The second case initially presented with asymptomatic pyuria and microscopic hematuria at age 7. His physical exam was notable for the absence of lower extremity bowing, dental malformations, and bone tenderness, and his family history was unremarkable for skeletal disorders. He presented at age 44 with several outside emergency department visits for weakness and dizziness before presenting to this institution following an episode of light-headedness and rapid heart rate of 160 beats per minute. He was without fractures until age 41, when he sustained a tibial plateau fracture after falling from his treadmill. He wore braces briefly at age 5 for lower extremity bowing, which resolved spontaneously. The first case has a 10-year history of well-controlled ulcerative colitis and atrial fibrillation. Described here are two individuals with atypical presentations of HHRH due to additional heterozygous mutations in SLC34A1 and NPHP4, genetic causes of idiopathic infantile hypercalcemia type 2 and nephronophthisis, respectively. Loss-of-function (LOF) mutations in SLC34A3 cause renal phosphate wasting due to loss of sodium phosphate co-transporter NPT2c, generally presenting in childhood with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). ![]()
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