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In lithogenesis, for a stone to form it is necessary that the urine is supersaturated with respect to the salt that will constitute the future stone. The objective was to analyze the urinary saturations of Calcium Oxalate (CaOxa), brushite (calcium phosphate), struvite (ammonium-magnesium phosphate) and uric acid (UA) in children with and without lithiasis. Correlate them with the different parameters involved in the lithiasic process. And compare saturations in children with or without overweight.We examined 108 healthy children and 53 patients diagnosed with lithiasis. In 24-h urine, the different biochemical parameters involved in lithiasis and the saturation levels of CaOxa, brushite, struvite and UA.We studied 108 healthy children with a mean age of 9.5 ± 3.9 years. Renal lithiasis was diagnosed in 53 patients with an average age of 10.5 ± 5.8 years. Children with lithiasis had higher saturation values of CaOxa (4.86 ± 2.71 vs. 3.15 ± 1.99,The mean values of calcium oxalate and brushite saturations were higher in children with lithiasis. Uric acid saturation was elevated in overweight children. Finally, urinary pH greatly influenced uric acid saturation.

Item does not contain fulltext Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore complex (NPC), cause SRNS. Here, we describe mutations in genes encoding 4 components of the outer rings of the NPC, namely NUP107, NUP85, NUP133, and NUP160, in 13 families with SRNS. Using coimmunoprecipitation experiments, we showed that certain pathogenic alleles weakened the interaction between neighboring NPC subunits. We demonstrated that morpholino knockdown of nup107, nup85, or nup133 in Xenopus disrupted glomerulogenesis. Re-expression of WT mRNA, but not of mRNA reflecting mutations from SRNS patients, mitigated this phenotype. We furthermore found that CRISPR/Cas9 knockout of NUP107, NUP85, or NUP133 in podocytes activated Cdc42, an important effector of SRNS pathogenesis. CRISPR/Cas9 knockout of nup107 or nup85 in zebrafish caused developmental anomalies and early lethality. In contrast, an in-frame mutation of nup107 did not affect survival, thus mimicking the allelic effects seen in humans. In conclusion, we discovered here that mutations in 4 genes encoding components of the outer ring subunits of the NPC cause SRNS and thereby provide further evidence that specific hypomorphic mutations in these essential genes cause a distinct, organ-specific phenotype.

Hypercalciuria is a common lithogenic risk factor. The aim of this study was, first, to study the characteristics of urine biochemical factors of children with hypercalciuria (HC) and compare them with those of children without hypercalciuria. Second, to analyze the differences between children with HC and lithiasis (HCL) and children with HC and no lithiasis (HCNL).The sample was composed by 111 cases with HC, divided into 2 groups: HCNL group, consisting of 93 cases with no personal history of kidney stones, and HCL group, 18 cases with personal history of kidney stones. As a cohort control group, 113 healthy children were used. Creatinine, urea, sodium, potassium, chlorine, uric acid, calcium, phosphorus, magnesium and osmolality: blood and 24-hour urine following parameters were determined. Oxalate and citrate were determined in urine.The mean values of natriuresis, uricosuria, phosphaturia, magnesuria, citraturia, calcium oxalate and calcium phosphate saturation were higher in HCNL than in control group. The HCL group had phosphaturia, calcium oxalate and calcium phosphate saturations more elevated compared with the control group. There were no significant differences in urinary excretion of various parameters when the groups HCL and HCNL were compared.Our results show that children with hypercalciuria without lithiasis associated show an increase in natriuresis, phosphaturia, uricosuria, magnesuria and citraturia. We found no differences between these urinary abnormalities when compared hypercalciuric children without lithiasis with those with hypercalciuria and urolithiasis.

We report a case of a male aged 50 years who consulted for renal disease recurrent lithiasis and nephrocalcinosis. The clinical examination showed external signs of rickets/osteomalacia and biochemical data as well as a severe loss of renal phosphate with hypophosphatemia, normal 25 OH vitamin D, high 1,25 OH vitamin D and hypercalciuria. Parathyroid hormone was low and renal ultrasound confirmed the existence of severe bilateral medullary nephrocalcinosis. They also found incipient chronic renal failure and incomplete renal tubular acidosis, both secondary to nephrocalcinosis and unrelated to the underlying disease. The molecular study found a change in homozygosity in intron 5 of gene SLC34A3 (NM_080877.2:c[ 448 +5Ggt;A] + [ 448 +5Ggt;A] ). His three children were carriers of the same variant in heterozygosis and although they were clinically asymptomatic two of them had hypercalciuria. All these data suggest that the patient had hereditary hypophosphataemic rickets with hypercalciuria (HHRH) secondary to an alteration in the sodium dependent phosphate cotransporter located in proximal tubule (NaPi-IIc). The HHRH is transmitted by autosomal recessive inheritance and is an extremely rare form of hypophosphatemic rickets. The diagnosis and treatment are essential to prevent bone sequelae of rickets and nephrocalcinosis. A correct differential diagnosis with other forms of hypophosphatemic rickets has implications on the treatment, as the management based only on phosphorus supplementation usually corrects all clinical and biochemical abnormalities, except for the loss of phosphorus in the urine. The exogenous supply of calcitriol, as advised in other hypophosphatemic rickets, may induce renal calcium deposits and nephrocalcinosis and worsens the prognosis.

The present investigation was designed to validate the usefulness of transtubular potassium (K) concentration gradient (TTKG) as an indicator of aldosterone bio-activity in infants and children. TTKG was calculated by the formula: [K]urine: (urine/plasma)osmolality/[K]venous blood. We compared this index with fractional K excretion (FEK) and urine K concentration to urine sodium (Na) concentration ratio (UK/UNa) in 473 normal children aged 1 month-15 years. Values of TTKG followed a non-gaussian distribution (median, 6.3; 3rd centile, 4.1; 97th centile, 13.4). TTKG in infants (n = 108; median, 7.8) was significantly higher than in children (n = 365; median, 6.0). TTKG correlated directly with FEK and UK/UNa. Indices of K excretion were also assessed in 13 patients with hypo- and pseudohypoaldosteronism. TTKG values varied between 1.6 and 4.1 and were all below the 3rd percentile established for the age of the subject. We conclude that calculation of TTKG is an easy and sensitive method for the evaluation of mineralocorticoid action in distal and collecting tubules.