Primary hyperparathyroidism in childhood is rare. Long-standing hypercalcaemia is reported to result in severe and irreversible renal damage. However, renal complications of hyperparathyroidism, particularly nephrocalcinosis are uncommon. We report a 12-year-old girl presenting after three years with extensive nephrocalcinosis and with rapid recovery of renal function. ( info) |
We present the case of an adolescent with hypercalcemia secondary to unrecognized hyperparathyroidism, which lead to complications such as pancreatitis, diabetes mellitus, and nephrocalcinosis. Although hypercalcemia is not common in the pediatric age, its early recognition and intervention are crucial for the prevention of highly morbid complications. ( info) |
143/158. Renal tubular acidosis and deafness: report of a large family. The syndrome of distal renal tubular acidosis (dRTA) and sensorineural deafness has been reported in consanguineous families and is believed to be inherited in an autosomal recessive pattern. All affected patients also have nephrocalcinosis. We report here a family with 6 of 12 children affected with this syndrome. The parents are unaffected and are not blood related. This is the largest family described to date with distal renal tubular acidosis and sensorineural deafness. ( info) |
144/158. prednisolone and cellulose phosphate treatment in idiopathic infantile hypercalcaemia with nephrocalcinosis. A girl presented at the age of 8 months with idiopathic infantile hypercalcaemia complicated by hypercalciuria, nephrocalcinosis and failure to thrive. Her hypercalcaemia was partially corrected by prednisolone, but resolved with the addition of cellulose phosphate. Her height and weight showed significant improvement during the treatment period. cellulose phosphate should be considered in the management of children with idiopathic infantile hypercalcaemia and nephrocalcinosis. ( info) |
Although nephrocalcinosis is a classical finding in primary hyperoxaluria type 1 (PH 1) associated with a poor renal survival it is exceptional in patients with PH type 2 (PH 2), characterized by a more favorable outcome. We describe an 8-month-old girl who suffered from recurrent urinary tract infections. Imaging studies revealed a profound corticomedullary nephrocalcinosis with no evidence of calculi. Urinary oxalate and D-glycerate excretion were massively elevated, while urinary glycolate or glyoxylate could not be detected, confirming the diagnosis of PH 2. Although the nephrocalcinosis progressed radiologically, renal function remained stable for over 2 years. Only further follow-up will show whether the associated nephrocalcinosis worsens the prognosis of our patient and of PH 2 in general. ( info) |
146/158. medullary sponge kidney associated with congenital hemihypertrophy. medullary sponge kidney is a developmental disorder characterized by ectatic and cystic malformation of the collecting ducts and tubules. Clinical manifestations include urinary tract infections, renal stones, and hematuria. It can be associated with other developmental disorders. A case of medullary sponge kidney associated with congenital hemihypertrophy, complicated by nephrocalcinosis and nephrolithiasis, is reported here. ( info) |
147/158. Neonatal bartter syndrome--use of indomethacin in the newborn period and prevention of growth failure. Neonatal bartter syndrome differs from the classical bartter syndrome in the occurrence of antenatal presentation with polyhydramnios. nephrocalcinosis and severe growth retardation are common sequelae. indomethacin has been reported to improve linear growth, but its use in the early newborn period has been infrequently described. In this paper we report normal growth and development and the absence of nephrocalcinosis in an infant now aged 19 months with neonatal bartter syndrome treated from day 3 of life with indomethacin. With early diagnosis and treatment with indomethacin plus adequate water, calories, and sodium, normal growth can be achieved and nephrocalcinosis may be prevented in children with neonatal bartter syndrome. ( info) |
148/158. Oxalate nephrocalcinosis: a study in autopsied infants and neonates. A review of renal histology from 44 neonatal and pediatric autopsies, all with documented intensive hospital courses, identified 8 cases showing varying degrees of microscopic calcium deposition. Histochemical and x-ray spectroscopic microanalysis showed that all eight cases contained intratubular deposits of calcium oxalate, and two cases contained both oxalate and phosphate microliths. The spatial arrangement of the deposits appeared to vary with the density of deposition. A control group of 68 non-intensively treated cases (stillbirths and sudden infant death syndrome cases) showed rare calcium phosphate microliths but none had oxalate crystals. Infantile nephrocalcinosis is little understood and is poorly documented in the current literature. This study may contribute to the understanding of this entity and may be useful in guiding stratagems to prevent its occurrence. ( info) |
149/158. Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. A 2-month-old child with infantile hypophosphatasia had hypercalcemia (3.49 mmol/L (14 mg/dl)), nephrocalcinosis, and diminished bone mineral content. hypercalcemia was corrected with calcitonin. hypercalciuria and bone demineralization abated with chlorothiazide. hypercalcemia is hypothesized to be related to normal bone resorption in conjunction with impaired bone mineralization. chlorothiazide may alleviate this impairment. ( info) |
150/158. Potential for bilateral nephrectomy to reduce oxalate release after combined liver and kidney transplantation for primary hyperoxaluria type 1. Primary hyperoxaluria type 1 (PH-1) is frequently associated with end stage renal failure due to urinary calculi, obstructive uropathy and interstitial deposits of calcium oxalate. The currently accepted treatment for PH-1 is liver transplantation to replace the deficient enzyme peroxisomal alanine glycoxylate aminotransferase (AGT) and a simultaneous renal transplant to restore renal function. The transplanted kidney may become significantly impaired or fail when systemic calcium oxalate is eliminated by renal excretion. The native kidneys are a major source of this oxalate. This study was undertaken to determine whether there is a difference in oxalate clearance following combined liver-kidney transplant in patients with PH-1 by comparing the effect of native kidney nephrectomy at the time of transplantation against leaving the native kidneys in situ. regression analysis was used to compare daily urinary oxalate excretion corrected for body surface area. There was a significant reduction in urinary oxalate excretion (P < 0.05) in the patient who had undergone bilateral nephrectomy compared to the patient whose native kidneys remained in situ for the first 100 d following combined liver and kidney transplantation. No difference was observed in the serum oxalate levels between patients over the same period or in the renal function assessed by creatinine clearance corrected for body surface area. Total body oxalate load was not determined in this study. A larger study should be undertaken to examine the benefits of nephrectomy in reducing oxalate deposition in recently inserted allografts for patients with PH-1. ( info) |