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Nephrocalcinosis in Authors 1 2 3 Dr. Vijay Baburao Sonawane , Dr. Snehal Prajapati , Dr. V.Kotrashetti 1Assistant Professor in Department of Pediatrics, 2Sr.Resident, 3Head of Unit Dr.D.Y.Patil Medical College and Hospital,Nerul, Navi Mumbai.Maharashtra, India Email: [email protected]

ABSTRACT Renal tubular acidosis (RTA) is a kind of hyperchloremic anion gap acidosis which occurs due to defect in acidification. We report an early unusual clinical presentation of Distal Renal Tubular acidosis with

Nephrocalcinosis in a four months old male child, who presented with Rickets. Keyword: Renal Tubular Acidosis, Nephrocalcinosis, Rickets.

INTRODUCTION acute illness or growth failure at a young age. In Renal tubular acidosis (RTA) is a medical contrast, dominant Type 1 RTA is a milder condition that involves an accumulation of acid in , and sometimes goes undiagnosed until the body due to a failure of the kidneys to adulthood3. appropriately acidify the urine1. Without proper We report an unusual clinical presentation of treatment, chronic acidity of the blood leads to Distal Renal Tubular acidosis with growth retardation, stones, disease, Nephrocalcinosis in a four months old male child, chronic , and possibly total kidney who presented with bowing of leg associated with failure2. swelling & tenderness. It is characterised by metabolic acidosis resulting from either impaired bicarbonate reabsorption or CASE REPORT impaired hydrogen ion excretion. There are 4 A four months old male child presented with types - proximal (type 2), distal (type 1) and complaints of bowing of left leg associated with hyperkalemic type (type 4) and Mixed2. Type 1 painful swelling just above the ankle on lateral RTA is severely affected, presenting with either side of same leg of a size 5cm x 3cm, which was

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hard in consistency and tender. There was no lower limbs showed features suggestive of Rickets

restriction of movement of the left ankle. Initial (Fig. 1), Investigations reaveled normal CBC, orthopaedic examination, vital parameters and Calcium-10mg/dl, Phosphorus-4.3mg/dl and systemic examination were normal. X-rays of raised serum alkaline phosphatase-762U/l .

Fig. 1 – Showing Features of Rickets Fig. 2 – USG Showing Rt Kidney Nephrocalcinisis

A diagnosis of Rickets due to type 1 renal tubular DISCUSSION Acidosis was made. The diagnosis of distal renal To our knowledge, this is the first case report of

tubular acidosis was made by the findings of Type 1 renal tubular acidosis with systemic acidosis, low bicarbonate, hypokalemia, nephrocalcinosis with clinical presentation like a normal anion gap and relatively alkaline urine rickets in four month old child in Indian literature. despite the acidemia. Nephrocalcinosis was seen The peculiarity of this case is early development on USG in the present case (Fig. 2). The patient of nephrocalcinosis with rickets in the absence of was started on ShohlÊs solution (1mmol of family history. sodium citrate and 1 mmol of citric acid) in a dose Renal Tubular Acidosis commonly presents with of 1mmol/kg/day in divided doses and vitamin D polyuria, and failure to thrive. and calcium supplements result in marked Proximal RTA occurs due to decreased improvement in swelling of leg and growth. reabsorption of filtered bicarbonate in the Serum calcium, potassium and phosphorus were proximal convoluted tubule while Distal RTA is normalised. due to the defective secretion of hydrogen ions in the collecting tubules and Hyperkalemic type is due to hypoaldosteronisim or decreased

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responsiveness to aldosterone which acts on the improvement in growth,swelling and tenderness

collecting tubules and causes hydrogen ion and of legs and metabolic parameters for the one year potassium excretion4. Distal RTA is associated follow up. with hypocitrateuria, hypercalciuria and nephrocalcinosis. REFERENCES

Nephrocalcinosis is an uncommon condition in 1. Laing CM, Toye AM, Capasso G, Unwin childhood where commonest cause is renal tubular RJ (2005). "Renal tubular acidosis: acidosis, although this may not manifest itself developments in our understanding of the

radiographically until adolescence4. But some molecular basis". Int. J. Biochem. Cell cases occurring as early as first month of life have Biol. 37 (6): 1151– 4 been reported similar to present child where 61. doi:10.1016/j.biocel.2005.01.002. PMI Nephrocalcinosis is visible on USG which is rare D 15778079. presentation in four month child. 2. Renal tubular acidosis – national kidney Distal RTA usually presents with polyuria, and urologic disease information clearing

dehydration, anorexia, and constipation house. or in cases of Distal RTA secondary to interstitial 3. Karet FE. Inherited distal renal tubular

/obstructive uropathy/ VUR they present acidosis. J Am Soc Nephrol 2002;13:

with the symptoms of the disease causing the 2178-84. RTA4.Our child presented with features 4. Nelson’s text book of pediatrics 18th

suggestive of rickets. edition – Kathrine MacRae Dell and Ellis Challa et al and Hanna et al have shown that D. Anver. Page 2197.

metabolic acidosis directly inhibited growth 5. Challa A, Kreig RJ Jr, Thabet MA, hormone secretion and gene expression at target Vedhuis JD, Chan JC Metabolic acidosis sites, thus contributing to growth failure of inhibits growth hormone secretion in rats: metabolic acidosis5,6 . Therefore early detection Mechanism of growth retardation Am J ant treatment of RTA is essential for optimal Physiol 1993;265 (4 Pt 1): E 547-553. growth. 6. Hanna JD, Santos F, Foreman JW, Chan Our patient was started with sodamint tablets after JC, Han VK Insulin like growth factor-I which swelling and tenderness reduced, gene expression in tibial epiphysial growth subsequent blood gases revealed improvement in plate of growth hormone-treated uraemic acidosis followed by clinical improvement. rats Kidney Int 1995;47: 1374-1382. The present case was treated with ShohlÊs solution which was well tolerated with significant

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