1/7. Bilateral urinary calculi after treatment with a silicate-containing milk thickener.nephrocalcinosis and/or urinary calculi are rare in infants. furosemide treatment during the neonatal period, vitamin d intoxication, hereditary diseases such as hyperoxaluria or distal tubular acidosis are among the most common aetiologies. We report the case of a 6-month-old boy with an extra-hepatic biliary duct atresia treated by the Kasai procedure and a gastro-oesophageal reflux treated with a silicate containing milk thickener (Gelopectose, 5.5% colloidal silicate) since the neonatal period. He did not present any other endogenous risk factor for urinary stone formation (normal urinary calcium/creatinine ratio; normal urinary magnesium excretion). The nephrolithiasis was discovered as the boy presented painful episodes of macroscopic haematuria. Ultrasound examination revealed bilateral nephrocalcinosis and multiple bilateral calculi without infection or urinary obstruction. Infrared spectroscopy revealed silicate as the major component suggesting silicate absorption to be responsible for the described symptoms. After replacement of the silicate-containing agent by a silicate-free milk thickener, the lesions were completely reversible as confirmed by repeated renal ultrasound examinations over a 2-month period. CONCLUSION: Silicate-containing milk thickeners can be responsible for urinary calculi and/or nephrocalcinosis.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
2/7. Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts.- - - - - - - - - - ranking = 0.5keywords = nephrocalcinosis (Clic here for more details about this article) |
3/7. An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics.A 19-year-old female patient with hypercalciuria and recurrent nephrolithiasis/urinary tract infection unresponsive to thiazide type diuretics is presented. The patient first experienced nephrolithiasis at the age of 4 years. Afterwards, recurrent passages of stones and urinary tract infection occurred. On diagnostic evaluation at the age of 19 years, she also had hypocitraturia and hypomagnesemia. Her serum calcium concentrations were near the lower limit of normal (8.5-8.8 mg/dl; normal range: 8.5-10.5), her serum magnesium concentrations were 1.15-1.24 mg/dl (normal range: 1.4-2.5) and urinary calcium excretion was 900 mg/24 h. PTH concentrations were increased (110-156 pg/ml; normal range: 10-65). We tried to treat the patient with hydrochlorothiazide at a dose of 50 mg/day. During treatment with thiazide diuretics, PTH concentration remained high and the patient had recurrent urinary tract infections and passages of stones. serum magnesium concentration did not normalize even under the parenteral magnesium infusion. Her mother had a history of nephrolithiasis 20 years ago. Severe hypomagnesemia in association with hypercalciuria/urinary stones is reported as a rare autosomal recessive disorder caused by impaired reabsorption of magnesium and calcium in the thick assending limp of Henle's loop. Recent studies showed that mutations in the CLDN16 gene encoding paracellin-1 cause the disorder. In exon 4, a homozygous nucleotide exchange (G679C) was identified for the patient. This results in a point mutation at position Glycine227, which is replaced by an arginine residue (G227R). The mother was heterozygous for this mutation. G227 is located in the fourth transmembrane domain and is highly conserved in the claudin gene family. This case indicates the pathogenetic role of paracellin-1 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis and further underlines the risk of stone formation in heterozygous mutation carriers.- - - - - - - - - - ranking = 0.5keywords = nephrocalcinosis (Clic here for more details about this article) |
4/7. Early onset of stone diseases and primary hyperoxaluria.A case of primary hyperoxaluria is presented. In a product of consanguinous marriage recurrent stone formation, nephrocalcinosis and increased urinary oxalate excretion revealed the diagnosis of hyperoxaluria. diagnosis and treatment of primary hyperoxaluria are briefly reviewed and the importance of elevated urinary oxalate level in diagnosis is emphasized.- - - - - - - - - - ranking = 0.5keywords = nephrocalcinosis (Clic here for more details about this article) |
5/7. urinary calculi in association with glomerular immaturity.The syndrome of glomerular immaturity associated with renal tubular acidosis and nephrocalcinosis or urolithiasis is illustrated by a case in which the diagnosis was made before the histological confirmation. Cases of urolithiasis in infants may be associated with this syndrome and attention must be paid to this rare but severe condition.- - - - - - - - - - ranking = 0.5keywords = nephrocalcinosis (Clic here for more details about this article) |
6/7. nephrocalcinosis in a patient with primary hyperoxaluria type 2.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.- - - - - - - - - - ranking = 2keywords = nephrocalcinosis (Clic here for more details about this article) |
7/7. nephrocalcinosis and urolithiasis in carbonic anhydrase ii deficiency syndrome.We report three new Kuwaiti patients with carbonic anhydrase ii deficiency (CA II) from two unrelated families. Each patient had osteopetrosis, distal renal tubular acidosis, and cerebral calcification. patients from family 1 (a brother and a sister) had some facial anomalies and delayed development. At the age of 14 months, ultrasound studies in the girl showed medullary nephrocalcinosis which has not been previously described in association with CA II, while cerebral CT scan revealed dilated ventricles. The patient from family 2, who had two previously reported affected siblings, developed bilateral recurrent renal stones and hypercalciuria but no nephrocalcinosis. None of his affected siblings had nephrocalcinosis or urolithiasis. dna analysis of patients from both families showed that each of them was homozygous for the "Arabic" mutation in the CA II gene. We report new features in three Arab patients with CAII deficiency. Also review all previously reported CA II cases from kuwait in order to highlight the inter-/intra-familial variability of the disease in this part of the world despite the overwhelming prevalence of the same "Arabic" mutation among the patient population.- - - - - - - - - - ranking = 1.5keywords = nephrocalcinosis (Clic here for more details about this article) |