Lesch-Nyhan syndrome (LNS) is a rare X -linked recessive disorder, that occurs almost exclusively in males. The disorder is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. LNS affects about 1 in 380,000 live births. The HGPRT deficiency causes a build-up of uric acid in all body fluids. Hypoxanthine degraded into xanthine and uric acid in the liver by the enzyme xanthine oxidase. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. LNS is characterized by three major signs: uric acid overproduction (hyperuricemia), neurologic dysfunction, and cognitive and behavioral disturbances including self-mutilation. We present a case of a 27-day-old full term male infant, that was admitted to our department due to failure to thrive, he was not eating and growing as he should, laboratory results revealed high levels of uric acid, hypocalcaemia, renal failure with metabolic acidosis. On admission, his weight 3300gram, low height for his age, Irritability, poor sucking, and muscle atrophy. After full investigation, diagnosis of LNS was established through biochemical analysis and molecular examinations.

Background and Objective: Urinary tract infection is the most common bacterial infection in the pediatric population.The upper urinary tract infection involves the kidney parenchyma and may cause scarring and permanent damage that will proceed to cause hypertension and decreased kidney function. Almost third of cases will relapse following the first infection in one year. There are different imaging techniques that can help to detect children at risk for future infections, kidney scarring or other systemic complications. The Ultrasonography of bladder and kidneys: is a relatively cheap, non-invasive and fast test that enables to find children with anatomical anomalies that can be corrected to avoid future infections or complications. Also, this test does not pose the risk of radiation exposure. Voiding cystourethrogram: is the test of choice to establish the presence of vesicoureteral reflux that is a major risk factor for future infections and scaring. This test has a radiation exposure risk, it is invasive and relatively complex to perform. DMSA scintigraphy test: may be performed to determine acute pyelonephritis or to investigate kidney scarring. This test has a greater radiation exposure risk. But it cannot distinguish between dysplasia of a kidney or scarring. With the development and improvement of the imaging capabilities of Doppler ultrasonography, we can measure the Resistive Index, which is a sonographic value to assess the kidney function. The normal value of the resistive index is 0.6 and the normal upper limit is 0.7. The increase in this value is related to kidney artery stenosis, extreme hypertension, infants, and intrinsic kidney disease. Importance: In this work, we want to measure if the Resistive Index can predict kidney scarring. Participants: We followed after 71 cases of kids from 0 to 11 years old that was admitted to our hospital Baruch Padeh Medical Center, Poriya, in the diagnosis of Urinary tract infection.71 children participated in the full evaluation. 56 children were under 2 years of age, 8 were aged 2 to 4 years, and 7 were over 5 years or older; 18 were males and 53 were females. Design: The diagnosis was made on the base of clinical presentation, laboratory blood analysis, urinary analysis, and urinary cultures. We measured the Resistive index in all of these patients. And they did the ordinary US of kidney parenchyma, the DMSA study and a cystography by the accepted protocols of our department. Settings: All patients underwent Doppler within 72 hours of hospitalization. Before our conclusions, we divided the patients in the study by their age. Main outcome: In the first group under 2 years old, we found a moderate correlation between the RI and DMSA study. And there was a strong correlation between RI and cystography .In the second group above 4 years, we found a strong correlation between RI both to DMSA and cystography. Results: In all the age groups we examined there is a strong correlation between RI and positive findings in cystography to find reflux.

Background:The incidence of vesicoureteral (VUR) in the general population is less than 1%. Reflux carries an increased risk of pyelonephritis and renal failure. The purpose of the current study was to check whether the voiding cystourethrography (VCUG) test is necessary in most cases of upper urinary tract infection (UTI) in children, and to investigate if there is a correlation between the presence of VUR and urinary tract infection, or the reflux is a random finding that does not require monitoring. In the same time, we studied the correlation with various markers of inflammation, renal ultrasound findings (US), 99m technetium (Tc)-dimercaptosuccinic acid (DMSA) nuclear renal scans findings, and the clinical presentation. Methods:The current study is retrospective, based on tests taken at the Poriya medical center in Tiberius (Eastern Galilee population), between 2009-2013. The study includes 88 children up to 2 years that were asked for VCUG. All the children had symptoms of UTI. Prior to performing the imaging tests, the children had laboratory tests (blood, urine, culture), then renal US. VCU was performed within two weeks to one month from the beginning of the complaints, for children up to six-month-old. Older children did the voiding test after doing DMSA. DMSA was done 3-5 months after the acute UTI.Results: Approximately 40% (37.5 %) of patients suffered from reflux: 66.7% with incorrect DMSA (filling defect / scar) had reflux. Only 18.2 % of children with normal DMSA results had reflux. Renal US test was not correlated with VCU results. High inflammation factors levels (CRP, ESR) were found in all subjects with reflux, and only 52.6 % of cases with positive reflux had low lymphocytes levels compared with only 14.3% in patients without reflux. Conclusions:VCUG is not required in most cases of upper UTI. Suitable replacement test can be done by renal DMSA, which has also an added value of detecting a potential renal damage (scars). High levels of inflammation factors, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) strongly suggest a possible existence of reflux. In contrast, lower levels deny the existence of reflux in children with upper UTI.

A two-week-old baby boy was administered to our department due to restlessness and vomiting. He was born to consanguineous parents from bedouin Origin. Patient history revealed that he was borne at term by normal vaginal delivery in a private hospital and cried immediately at birth. His birth weight was 2.5kg and length were 34.5cm. In the father's family, a number of children died at an early age due to unknown reason. On physical examination: a very small baby with facial dysmorphism. Same weight as birth weight 2.5kg, no pathological finding on auscultation of the heart and lungs. non-pitting edema in the legs and hands. The umbilical area

People with PHA-II have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function. Hyperkalemia usually occurs first, and hypertension develops later in life. Affected individuals also have high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). In all children with dehydration and salt loss, the differential diagnosis includes congenital adrenal hyperplasia and pseudohypoaldosteronism. These two conditions are characterized by laboratory findings of hyponatremia, hypercalcemia, and acute metabolic acidosis with urinary Anomaly. Hyponatremia with hyperkalemia can be a manifestation of congenital adrenal hyperplasia (CAH). However, In the presence of pyelonephritis, the same biochemical event can occur