Maple syrup urine disease associated with nephrotic syndrome in a Filipino child.

A 22-month-old female child with maple syrup urine disease (MSUD) presented with generalised oedema. Diagnostic evaluation revealed nephrotic range proteinuria, hypoalbuminaemia and dyslipidaemia supporting the diagnosis of nephrotic syndrome (NS). Diet, being at the core of the management plan for both MSUD and NS, necessitated regular monitoring and evaluation via dried blood spot collection of leucine. The opposing requirement for total protein for both disorders (that is protein restriction in MSUD and protein supplementation in NS) prompted a careful balancing act of the dietary management. The monitoring, which revealed normal leucine levels on multiple determinations, allowed an eventual increase in dietary protein and daily administration of albumin to address the NS. Dietary protein increase, both in total protein (3.5 g/kg/day) and natural protein (1 g/kg/day) levels, was instituted. It was observed that NS does not trigger leucinosis and allowed easing of protein restriction in MSUD.

Renal vascular thrombosis in the newborn.

Neonatal renal vascular thrombosis is rare but has devastating sequelae. The renal vein is more commonly affected than the renal artery. Most neonates with renal vein thrombosis present with at least one of the three cardinal signs, namely, abdominal mass, macroscopic hematuria and thrombocytopenia, while unilateral renal artery thrombosis presents with transient hypertension. Contrast angiography is the gold standard for diagnosis but because of exposure to radiation and contrast agents, Doppler ultrasound scan is widely used instead. Baseline laboratory tests for platelet count, prothrombin time, activated partial thromboplastin time and fibrinogen concentration are essential before therapy is initiated. Maternal blood is tested for lupus anticoagulant and anticardiolipin antibody. Evaluation for prothrombotic disorders is warranted when thrombosis is clinically significant, recurrent or spontaneous. Management should involve a multidisciplinary team that includes neonatologists, radiologists, pediatric hematologists and nephrologists. In addition to supportive therapy, recent guidelines recommend at least prophylactic heparin therapy in the majority of cases to prevent thrombus extension. Thrombolytic therapy is reserved for bilateral thrombosis compromising kidney function. Long-term sequelae, such as kidney atrophy, systemic hypertension and chronic kidney disease, are common, and follow-up by pediatric nephrologists is recommended for monitoring of kidney function, early detection and management of hypertension and chronic kidney disease.