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Overhydrated hereditary stomatocytosis is frequently linked to mutations in genes that encode components of the band 3 complex, such as RHAG. [4] It is the altered band 3 protein complex which mediates the cation leaks that are characteristic of hydrocytotic hereditary stomatocytosis.
Resection of the tumor is the ideal treatment and results in correction of hypophosphatemia (and low calcitriol levels) within hours of resection. Resolution of skeletal abnormalities may take many months. If the tumor cannot be located, begin treatment with calcitriol (1–3 μg/day) and phosphate supplementation (1–4 g/day in divided doses).
Phase 2 clinical trials of bone targeted enzyme-replacement therapy for the treatment of hypophosphatasia in infants and juveniles have been completed, and a phase 2 study in adults is ongoing. [52] [53] Pyridoxine, or Vitamin B6 may be used as adjunctive therapy in some cases, which may be referred to as Pyridoxine responsive seizures. [15] [54]
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. [1] Symptoms may include weakness, trouble breathing, and loss of appetite. [ 1 ] Complications may include seizures , coma , rhabdomyolysis , or softening of the bones .
Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D. [1] Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct. [1] ADHR may be lumped in with X-linked hypophosphatemia under general terms such as hypophosphatemic rickets.
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness).
Hereditary stomatocytosis: D58.8: 29710: Hereditary stomatocytosis is a classification of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions, causing cell lyses and eventual haemolytic anaemia. Hexokinase deficiency: D55.2
Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. [ 6 ] Although the wide distribution of stomatin and its constitutive expression suggest an important role for this protein in cell biology, perhaps as a “house-keeping” component, its function remains undetermined.