Selective immunoglobulin A deficiency (SIgAD) is the most common predominantly antibody deficiency, with a wide range of presentations from asymptomatic to severe manifestations. Although many studies have investigated different aspects of SIgAD, no study has yet presented a comprehensive classification of this disease. Based on clinical manifestation of patients and various immune abnormalities associated with SIgAD, this group of patients could be classified into five different phenotypes including asymptomatic, minor infectious, allergic, autoimmune and severe phenotypes. This classification aids physicians in identifying patients and in choosing appropriate management and treatment as well as homogenized groups for molecular and genetic studies.
PH type 2 is caused by decreased activity of GRHPR enzyme that eventually leads to ESRD and systemic oxalosis. Here, we describe an Iranian pediatric patient with PH2 and early ESRD development who received recommended treatment by undergoing isolated kidney transplantation. Diagnosis criteria included a history of reoccurring calcium oxalate renal stones and elevated oxalate levels combined with liver biopsy and decreased enzymatic activity at age five. ESRD prompted transplantation and was performed at age nine. On Day 12 post-op, his serum creatinine level increased. A graft biopsy showed calcium oxalate crystal deposits in renal tubes with no evidence of acute rejection, which resolved with intensive hydration and administration of a potassium citrate solution. Subsequent biopsies confirmed results found in first biopsy. Despite the immunosuppressive therapy, his serum creatinine level increased again after 11 months. Renal tubular obstruction then led to graft nephrectomy. Pathological analysis of tissue confirmed findings of past biopsies. This was a very rare case of early ESRD in PH2 resulting in a failed isolated kidney transplant. As the GRHPR enzyme is predominantly expressed in liver, we suggest a combined liver-kidney transplant may be beneficial in patients with PH2.
Despite current efforts, more comprehensive studies are needed, especially for classification and investigation of the genetic background and prognostic factors for patients with CVID in order to better managment and followup of patinets.
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