Homozygous G701D is a common cause of AR dRTA in ethnic Thai pediatric populations. HRM can be used as a rapid screening method for common SLC4A1 mutations that cause AR dRTA in Southeast Asian and other populations.
Lupus anticoagulant, also known as lupus antibody, is generally associated with thrombosis rather than bleeding events. Lupus anticoagulant-hypoprothrombinemia syndrome in children is rather rare but can lead to mild to life-threatening bleeding. Here, we report 3 cases of lupus anticoagulant-hypoprothrombinemia syndrome associated with systemic lupus erythematosus. They initially presented with mucocutaneous bleedings, and subsequently developed other symptoms fulfilling the laboratory criteria for systemic lupus erythematosus. Case 2 and 3 had significant epistaxis and intracerebral hemorrhage responded to systemic corticosteroid along with fresh frozen plasma. Three cases demonstrated acquired hypoprothrombinemia with no correction of mixing studies. Case 1 had low factor X level, which has never been reported previously. In all 3 cases, their coagulogram returned to normal level after corticosteroid treatment.
Background: Antenatal hydronephrosis (ANH) is a condition characterized by fetal renal pelvic dilatation during pregnancy. It is detected in 1%−5% of all pregnancies. Most cases of ANH are physiological in nature, but some are pathological and can cause morbidity. Objective: To determine: (a) the causes of ANH; (b) the factors associated with complications; and, (c) the factors associated with surgical intervention. Methods: We reviewed the medical records of infants diagnosed with ANH; defined by a renal pelvic anteroposterior diameter ≥5 mm (based on antenatal ultrasonography) and being followed-up at Srinagarind Hospital. Results: Forty-six infants (32 boys and 14 girls) with ANH were identified. Over half (57%) were born in our hospital (in-hospital) with the condition. The two most common causes of ANH were ureteropelvic junction obstruction (32%) and transient hydronephrosis (22%). Of the 63 abnormal kidneys, 52% needed surgical intervention. Twenty-two patients (48%) had urinary tract infections and most had more than 1 episode. None of the 46 patients had end-stage renal disease, but one died because of lung hypoplasia during the neonatal period. The severity of ANH and time of first postnatal ultrasonography were related to medical complications, while bilateral ANH and more severe ANH were associated with the need for surgical intervention. A milder degree of ANH and postnatal ultrasound findings were significantly associated with transient hydronephrosis. Conclusion: Most cases of ANH were pathological and half required surgical intervention. Severe ANH and delayed investigation were associated with poor outcomes.
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