Abstract
IntroductionMedullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade of life.Case presentationDistal renal tubular acidosis is commonly observed in patients with medullary sponge kidney. We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of distal renal tubular acidosis, (persistent alkaline urine, hypercalciuria, hypocitraturia) and failure to thrive. Renal ultrasound revealed left renal increased medullary echogenicity and bilateral nephrocalcinosis.ConclusionEarly gene(s) expression of medullary sponge kidney disease might be responsible for persistent metabolic acidosis during the neonatal period.
Highlights
Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys
Case presentation: Distal renal tubular acidosis is commonly observed in patients with medullary sponge kidney
We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of distal renal tubular acidosis and failure to thrive
Summary
Medullary sponge kidney (MSK) is a rare developmental abnormality characterized by cystic dilatation of the collecting tubules in one or more renal pyramids in one or both kidneys. The patient was born full term, 3500kg (+1 SD) by normal vaginal delivery, with a cephalic presentation Her mother is 26 years old, G3P3 with no family history of renal diseases and her husband is a first cousin. Our patient’s complaint started with persistent vomiting and dehydration when she was 15 days old She was admitted to the neonatal intensive care unit (NICU) for 4 days with no significant improvement. At the age of 45 days, the patient’s conscious level deteriorated, suckling decreased and she was admitted to the pediatric intensive care unit (PICU) On admission, her modified Glasgow Coma Scale (GCS) was 12, she had severe dehydration with dry mucous membranes, poor perfusion (capillary refill: 5s), a temperature of 38.2 0C, weight 3300kg (−2.8 SD) and bilateral diffuse sonorous rhonchi over her chest. Urine and blood tests were performed to confirm the diagnosis and distinguish between proximal and distal renal tubular acidosis (Table 1)
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