The Comparison of the Results of Ultrasound, CT and MRI in the Diagnosis of Angiomyolipoma Kidneys, Including Complicated by Development of the Syndrome Wunderlich

Purpose: Analysis the effectiveness of various methods of radiation studies for the detection of renal angiomyolipomas (RAMLs), including the diagnosis of Wunderlich syndrome. Material and methods: The analysis of the results of a comprehensive radiation study of the kidneys of 115 patients who were diagnosed with focal formation in primary renal ultrasound was carried out. Further, of those 115 people, 47 patients underwent MRI of the kidneys, 60 patients – CT and 8 patients complex MRI+CT, including contrast-enhanced vasculature. Results and discussion: Angiomyolipoma was detected by ultrasound in 38 (33.0 %) of 115 patients, and according to MRI and CT in total in 27 (23.5 %) patients. Coincidence of ultrasound findings and MRI and CT results was in 18 patients. Consequently, the sensitivity of ultrasound in the diagnosis of RAML was compared with MRI – 45 %; when compared with CT – 42.8 %, and specificity – 55 % and 57.1 %, respectively. Reliable signs of RAML in ultrasound were hyperechogenic homogeneous structure, clear smooth contours of the formation. The rounded form of education is statistically unreliable. Statistically significant characteristics of RAML in magnetic resonance imaging are heterogeneous structure, heterogeneous hyperintense MR-signal on T1 and heterogeneously hypointensity on T2-weighted images, always uniformly hypo-Fs for T1 / T2 Fs, with hypo clear boundary between education and renal parenchyma on T1 in the opp phase. Reliable signs of RAML with CT are non-uniform structure of education, with non-uniform x-ray density. Conclusion: Ultrasound diagnosis is necessary for screening kidney disease, while CT and MRI have greater sensitivity and specificity to determine the nature of focal formation. With the development of Wunderlich’s syndrome, a complex of radiological methods, including ultrasound, MRI and CT, allows to diagnose the cause of hemorrhage, as well as to obtain complete diagnostic information necessary for the surgeon to plan treatment.

Twinkle artifact in renal ultrasound, is it a solid point for the diagnosis of renal stone in children?

Background: Twinkle artifact, also known as color Doppler comet-tail artifact, occurs behind very strong, granular, and irregular reflecting interfaces such as crystals, stones, or calcification. This is visualized as a random mixture of red and blue pixels in the high-frequency shift spectrum located deep to the interface. Study results have suggested that the sonographic twinkling artifact may aid in the detection of renal stones with a variety of reference standard imaging modalities, including abdominal radiography, excretory urography, gray-scale sonography, and CT. Material and methods: Our retrospective observational study included children who had undergone abdomen/renal ultrasound for kidneys stones in our radiology department between 2013 and 2019. Presence of the twinkle artifact, and stone numbers and sizes were documented. CT examinations done <3 months prior to or after US were retrospectively assessed to confirm the presence of kidney stones as a reference standard. Results: Thirty-three abdominal renal US scans of 33 patients (21 males, 12 females) fulfilled the entry criteria. The interval between the US and CT was <3 months for all patients. The median overall age of the patients was 4 years (IQR: 3.125, range: 1– 165 months), The median number of days between the US and CT was 13 (IQR: 26, range: 0–81 days). US detected 33 hyperechoic foci suspected to be stones; 26 were confirmed as true positive (i.e. showed the twinkle artifact and were seen in CT), 4 were false positive (showed the twinkle artifact but were not seen in CT), and 3 were false negative (did not show the twinkle artifact but were seen in CT). The overall median stone size was 2 mm in the right kidney, and 5 mm in the left kidney (IQR: 6,11 mm), respectively. Twinkle artifact sensitivity was found to be 89.7% (95% CI 39.574%–90%). The twinkle artifact was assessed in all true-positive stones, determining a relatively high PPV of 26/29 (86.7%) for the twinkle artifact. The twinkle artifact was not dependent on stone size. Specificity for the twinkle artifact could not be calculated due to a lack of true negatives. Conclusion: The twinkle artifact is a sensitive US tool for detecting pediatric kidney and ureter stones, but with a small risk of false positive findings.

Prenatal Diagnosis of Severe Fetal Hydronephrosis Due to Pyeloureteral Junction Syndrome with False Neonatal Resolution

A case of severe fetal hydronephrosis due to isolated bilateral stenosis of the pyelo-ureteral junction was diagnosed at our centre. Surprisingly, a negative renal ultrasound scan was performed on the 3rd postnatal day. An ultrasound follow-up showed severe bilateral pyelectasis a few weeks later. The infant underwent bilateral pyeloplasty at six months of age with an excellent outcome. Such a neonatal picture may be due to the reduction of urinary output secondary to excessive postnatal weight loss and dehydration. In this case, prenatal ultrasound result was more reliable than postnatal ultrasound, emphasizing the importance of postnatal urologic follow-up after prenatal indication.

Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up

Purpose: Hypercalcemia with low parathyroid hormone (PTH) level, hypercalciuria, nephrocalcinosis, or nephrolithiasis, was recently reported as caused by mutations in CYP24A1 and SLC34A genes. These encode for vitamin D-24A-hydroxylase and for the renal phosphate transporters NaPiIIa and NaPiIIc, respectively. We aimed to describe the clinical course of these monogenic disorders in patients with and without found mutations during long-term follow-up.Methods: Ten patients with hypercalcemia, hypercalciuria, elevated 1,25-(OH)2D levels and suppressed PTH were followed in our center during 1998–2019. Relevant laboratory and imaging data and results of genetic evaluation were retrieved from medical files.Results: The median age at presentation was 9.5 months (range 1 month−11 years), six were males, and the median follow-up time was 3.8 (1.1–14) years. Mutations in CYP24A1 and SLC34A3 were identified in three and one patients, respectively. Five patients presented with nephrocalcinosis, three with nephrolithiasis, and two had normal renal ultrasound. High blood calcium and 1,25-(OH)2D levels at presentation decreased during follow-up [11.1 ± 1 vs. 9.9 ± 0.5 mg/dl (p = 0.012), and 307 ± 130 vs. 209 ± 65 pmol/l (p = 0.03), respectively]; this paralleled an increase in suppressed PTH levels (5.8 ± 0.9 vs. 11.8 ± 7.3 pg/ml, p = 0.2). Substantial improvements in hypercalciuria and renal sonography findings were not observed. Two patients had impaired renal function (eGFR 84–88 ml/min/1/73 m2) at the last follow up. Interventions included appropriate diet, citrate supplementation, and thiazides.Conclusion: Despite improvement in hypercalcemia and 1,25-(OH)2D levels, not all the patients showed improvements in hypercalciuria and nephrocalcinosis. Deterioration of renal function was also observed. Long-term follow up and intervention to prevent nephrocalcinosis and nephrolithiasis are recommended in these children.

P088 Prolonged fever in a boy revealing Takayasu disease: a case report

Background Takayasu's arteritis (TA) is a chronic inflammatory vasculitis of unknown origin. It affects the large vessels, especially the aorta, its main branches, and the pulmonary arteries. It begins acutely in children with severe general manifestations. The diagnosis of TA remains a challenge to clinicians due to many reasons such as its rarity, its great clinical polymorphism, and the lack of specific biological criteria. Case report A 13-years old boy with no pathological history, was admitted for prolonged fever with intermittent abdominal pain. The clinical examination has found a conscious boy, febrile with a BP of 130/90mmhg, a normal heart rate, and stable respiratory function. The cardiovascular examination noted a decrease in pedal pulses, without signs of ischaemia or necrosis, and the cardiac auscultation was normal. Examination of the lymph node areas has shown upper and left later cervical adenopathy measuring 1.7 cm in long axis, mobile, and painless. All joints were free. The complementary biological workups revealed an inflammatory syndrome (ESR: 120 mm, fibrinogen: 5 g/l, microcytic hypochromic anaemia at 9 g/dl, ferritin: 1051, low serum iron: 11µg/dl and thrombocytosis: 692 000 elements/l). Chest X-ray showed a dilated aortic button. A thoracic angioscan revealed a peri-aortitis more evident at the level of the emergence of the mesenteric artery with a pseudo-aneurysmal aspect and arteritis of the right primary carotid artery. Echocardiography was performed and showed a dilated aspect of the aorta with irregular wall. Renal ultrasound was normal. The diagnosis of Takayasu disease was made on the basis of clinical biological and essentially radiological arguments according to the diagnostic criteria of the American College of Rheumatology. The patient was treated with corticosteroid (prednisone: 2 mg/kg/d) for one month then then gradually reduced doses The disease course was marked by several relapses and the patient was then treated with mycophenolate mofetil (cellcept). Conclusion Takaysu's disease is a chronic inflammatory vasculitis of unknown origin, which affects the large- vessels, mainly the aorta, its main branches, and the pulmonary arteries; but it remains rare in children and its treatment is not well codified.

Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report

Background Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by COL4A5 mutation. Mutations of COL4A3 and COL4A4 on chromosome two are also common causes of Alport syndrome. IgAN is the most common glomerulonephritis worldwide. Though IgAN is usually sporadic, an estimated 15% of cases have an inheritable component. These cases of Familal IgA Nephropathy (FIgAN) can have mutations on genes which are known to cause Alport Syndrome. Case presentation We report a case of a 27-year-old man with strong family history of renal disease, who presented with hematuria and new non-nephrotic range proteinuria. Physical exam showed no abnormalities. His creatinine remained persistently elevated, and renal ultrasound exhibited bilaterally increased echogenicity consistent with Chronic Kidney Disease. Twenty-four-hour urinary collection revealed non-nephrotic range proteinuria of 1.4 g, with otherwise negative workup. On biopsy, he had IgA positive immunofluorescent staining as well as moderate interstitial fibrosis and tubular atrophy. Electron microscopy showed a basket-weave pattern of thickening and splitting of the lamina densa-consistent with Alport Syndrome, as well as mesangial expansion with electron-dense deposits -consistent with IgAN. Conclusions Mutations of COL4A5 on the X chromosome, as well as mutations of COL4A3 and COL4A4 on chromosome 2, can cause both Alport Syndrome and FIgAN. Genome wide association studies identified certain Angiotensin Converting Enzyme gene polymorphisms as independent risk factors for progression of IgAN. Our Presentation with this co-occurring pathology suggests a new paradigm where Alport Syndrome and FIgAN may represent manifestations of a single disease spectrum rather than two disparate pathologies. Appreciating hematuria through this framework has implications for treatments and genetic counseling. Further genome wide association studies will likely increase our understanding of Alport Syndrome, FIgAN, and other causes of hematuria.