Mid-Aortic Syndrome: A Rare Cause of Renovascular Hypertension in Childhood Treated Percutaneously with an Unusual Vascular Access.

INTRODUCTION: Mid-Aortic Syndrome (MAS) is a rare vascular malformation characterized by segmental narrowing of the abdominal aorta and stenosis of its principal branches. Patients affected by MAS typically present malignant renovascular hypertension, with variable clinical symptoms like claudication, abdominal angina, and headache. Moreover, they can develop other complications, such as hypertensive encephalopathy, congestive heart failure and vascular brain accidents. Hypertension with MAS is often resistant to multidrug therapy, requiring a surgical approach to treat the clinical symptoms, prevent or block organ damage and normalize the blood pressure. CASE REPORT: Here, the case of a 4-year-old boy showing elevated blood pressure with left ventricular hypertrophy leading to idiopathic MAS, who was successfully treated with percutaneous transcatheter renal angioplasty (PTRA) using an unusual, anterograde access, is reported. DISCUSSION AND CONCLUSION: In children and adolescents, vascular malformations like MAS must be considered as a possible cause of hypertension. PTRA is a successful therapeutic strategy in children with severe renovascular hypertension. Anterograde access, using an axillary artery, can be a valid approach for PTRA when femoral access is difficult to achieve.

From Uganda to Italy: a case of nephrotic syndrome secondary to Plasmodium infection, Quartan malarial nephropathy and kidney failure.

Gentile F, Martino M, Santangelo L, Giordano P, Torres DD, Carbone V, Di Palma AM, Rossini M, Gesualdo L, Giordano P, Giordano M. From Uganda to Italy: a case of nephrotic syndrome secondary to Plasmodium infection, Quartan malarial nephropathy and kidney failure. Turk J Pediatr 2019; 61: 776-779. Malaria (M), the first parasitic infection, is sometimes associated with nephrotic syndrome (NS) in tropical areas. Kidney involvement during quartan malaria is represented by immune-complex mediated glomerulonephritis (GN). Generally, NS develops several weeks after onset of quartan fever and its clinical course proceeds slowly to end-stage kidney disease (ESKD) even after eradication of the infection. We describe a case of Plasmodium malariaeassociated nephrotic syndrome and chronic proliferative glomerulopathy in a boy from Uganda. Renal biopsy revealed chronic proliferative GN with capillary wall thickening producing a double contour, segmental sclerosis and tubular atrophy. Blood Giemsa smear contained rare ring-form trophozoites and gametocytes of Plasmodium spp. This case highlights the importance of obtaining remote travel histories from immigrants presenting with nephrotic syndrome especially due to the current immigration crisis in Europe. Malaria has low prevalence or less known in our continent and requires more medical attention by European doctors.

Indications and results of renal biopsy in children: a 36-year experience.

BACKGROUND: This study was conducted to investigate retrospectively the indications for renal biopsy (RB) in native kidneys and to analyze pathological findings in a single tertiary pediatric hospital in Southern Italy for the last 36 years. METHODS: All patients who underwent RB at our hospital from 1979 to 2014 were included. All renal tissue specimens were studied under light and immunofluorescent microscopy, while electron microscopy was performed only for specific clinical indications. RESULTS: The study group included 213 patients (female 43.2%) who underwent 225 percutaneous native kidney biopsies. Median age was 10.4 years (range 0.6-24 years). The most frequent indication for RB was nephrotic syndrome (44.4%), followed by proteinuria (27.6%), asymptomatic hematuria (17.3%) and acute kidney injury (9.8%). Gross hematuria appeared after biopsy in less than 5% of the patients, but none of them needed blood transfusion. Adequate renal tissue sample was obtained in 95.5% of the renal biopsies. Primary glomerulonephritis (GN) was the most common finding (61.4%), followed by secondary GN (21.4%), tubulointerstitial diseases (3.7%) and hereditary nephropathy (2.8%), while in 10.7% of the cases, normal renal tissues were found. According to histopathological diagnosis, the most common causes of primary GN were IgA nephropathy (20.9%), followed by minimal change disease (18.1%) and focal segmental glomerulosclerosis (11.6%). CONCLUSIONS: The epidemiology of glomerular disease in our single-center cohort is similar to that shown in other national and international reports. Moreover, our study shows that percutaneous ultrasound-guided RB is a safe, reliable and effective technique in children.

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.

BACKGROUND/AIMS: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH). METHODS: We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels <10 pg/ml and 4 adult patients with nephrolithiasis, mild hypercalcemia and PTH levels <10 pg/ml from 11 unrelated Italian families. Clinical and biochemical data were collected. Genomic DNA was extracted from peripheral blood leucocytes using standard methods, and whole coding sequence of CYP24A1 gene was analysed in all patients and family members by polymerase chain reaction and direct sequencing. The potential pathogenicity of the newly identified missense mutations was evaluated by 3 different in silico approaches (Sorting Intolerant from Tolerant, Polyphen and Mutation Taster) and by comparative analysis in 14 different species using ClustalW software. RESULTS: CYP24A1 bi-allelic mutations were found in 8 individuals from 7 Italian families (7/11; 64%). Overall, 6 different CYP24A1 mutations, including one small deletion (p.Glu143del), 4 missense mutations (p.Leu148Pro; p.Arg396Trp; p.Pro503Leu; p.Glu383Gln) and one nonsense mutation (p.Tyr220*) were identified. Two out of 6 mutations (p.Tyr220* and p.Pro503Leu) were not previously described. Moreover, a new CYP24A1 variant was identified by genetic screening of asymptomatic controls. CONCLUSION: To the best of our knowledge, this is the first report of a CYP24A1 molecular analysis performed in an Italian cohort of adult and pediatric Italian patients. This study (1) confirms that CYP24A1 plays a causal role in some but not all cases of IIH (64%); (2) expands the spectrum of known CYP24A1 pathogenic mutations; (3) describes 2 hotspots detected in 50% of all Italian cases; and (4) emphasizes the importance of recognition and genetic diagnosis of CYP24A1 defects in infantile as well as adult hypercalcemia.

A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

BACKGROUND: Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused by mutations in the gene SMARCAL1. CASE PRESENTATION: We report the clinical and genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because of nephrotic-range proteinuria occasionally detected during the follow-up for congenital hypothyroidism. Mutational analysis of SMARCAL1 gene was performed by polymerase chain reaction (PCR) and bidirectional sequencing. Sequence analysis revealed that patient was compound heterozygous for two SMARCAL1 mutations: a novel missense change (p.Arg247Pro) and a well-known nonsense mutation (p.Glu848*). CONCLUSION: This report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans. Our experience highlighted the importance of detailed clinical evaluation, appropriate genetic counseling and molecular testing, to provide timely treatment and more accurate prognosis.