Gülşah Kaya Aksoy

Urinary system obstruction in a preterm infant: Answers

1. The ultrasound (US) scan showed that both kidneys were large for his age (left kidney 72 mm and right kidney 73 mm), and it was difficult to differentiate cortex and medulla. Bilateral hydronephrosis, graded according to the Society for Fetal Urology, was grade 3, which means that the renal pelvis dilated beyond the sinus and calyces were uniformly dilated, with a renal pelvic anteroposterior diameter of 10 mm. Multiple echogenic particles within both renal pelvises without an acoustic shadow, compatible with bilateral renal fungus balls, were seen (Fig. 1). An antegrade pyelography revealed no passage of contrast agent to the ureter, due to obstruction of fungus balls (Fig. 2). The reason for acute kidney injury (AKI) in our case was bilateral urinary system obstruction caused by fungus balls. Both urine and blood cultures were positive for Candida albicans. A urine specimen taken from the renal pelvis via nephrostomy was also positive for Candida albicans. The patient had a history of intubation, central catheterization, total parenteral nutrition, longterm and broad-spectrum antibiotic usage in addition to prematurity and low birth weight, all of which are risk factors for the development of renal candidiasis. 2. The patient was administered intravenous furosemide and sodium bicarbonate at the emergency service; however, lung auscultation signs did not improve and his metabolic acidosis was resistant to medical treatment at the second hour following admission. So, it was decided to initiate renal replacement therapy. A peritoneal dialysis catheter was placed and dialysis was performed in the intensive care unit. At hour 16 following initiation of peritoneal dialysis, his rales completely disappeared and the acidosis was corrected. Due to the presence of bilateral urinary system obstruction, bilateral nephrostomy catheters were placed in order to provide urinary drainage, after which renal failure resolved rapidly.

Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement

Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of beta-galactosidase and neurominidase. In this report, we present a 9-month-old early infantile Galactosialidosis infant with renal involvement. In the literature only isolated cases of Galactosialidosis with IgA nepropathy, renal insufficiency and renal transplantation reported. To the best of our knowledge, the patient is the first case reported in the literature in which steroid resistant nephrotic syndrome has been found in a Galactosialidosis patient.

Delayed diagnosis of primary vesicoureteral reflux in children with recurrent urinary tract infections: Diagnostic approach and renal outcomes

OBJECTIVE In this study, we aimed to assess renal outcomes of delayed diagnosis of dilating primary vesicoureteral reflux (VUR) following recurrent febrile urinary tract infections (fUTIs) and its diagnostic imaging procedures. MATERIAL AND METHODS The medical records of patients who underwent ultrasonography (US), non- acute dimercaptosuccinic acid (Tc-99mDMSA) scintigraphy and voiding cystourethrography (VCUG), and who were older than 2 years at the time of VUR diagnosis were retrospectively reviewed. RESULTS A total of 32 children (female, n=27: 84.4%) with a mean age of 7.67±3.34 years at the time of diagnosis of VUR were included in the study. Grade III, IV, V VUR were found in 22%, 69%, and 9% of the patients, respectively. At the time of VUR diagnosis, abnormal US findings were detected in 75% of the cases. Tc-99mDMSA detected abnormalities in 83.9% (7 with a single scar, 7 with multiple lesions, 12 with reduced kidney function) of the patients. Estimated glomerular filtration rate of 3 patients with bilateral grade IV VUR was <75 mL/min/1.73 m2. In 5 patients (16%), VUR could not be predicted by US+DMSA scintigraphy (Grade IV VUR in 3 and Grade III in 2 cases ). The sensitivity in predicting VUR was 75.00% (95% CI: 56.60-88.54) and 83.87% (95% CI: 66.27-94.55), respectively, for US alone and combined US+DMSA. CONCLUSION VCUG should be performed routinely in addition to US and non-acute DMSA in all children referred with recurrent fUTIs. Awareness of childhood UTI in public and healthcare personnels should be increased in order to refer these patients at a early stage to pediatric urology and nephrology units.

Proteinuria in a male adolescent with hearing loss: Answers

Question 1 The electron microscopy study revealed the presence of zebra bodies (lamellar lipid inclusion bodies) in the podocyte cytoplasm, which is pathognomonic for Fabry disease [1]. Since Fabry disease is very rarely encountered in pediatric nephrology practice, the symptoms of patients presenting with proteinuria and hearing loss are usually considered to be suggestive of Alport syndrome or of diseases affecting coenzyme Q10 metabolism. In our patient, the presence of proteinuria without hematuria should rule out Alport disease. Hematuria can also be observed in Fabry disease, although rarely, leading to confusion with glomerular diseases [2].

An adolescent presenting with acquired acute renal damage: Questions

A 16-year-old girl was admitted to the pediatric nephrology department following testing that detected azotemia and headache. She was the fourth child of the fourth pregnancy of non-consanguineous parents, and her past medical history was unremarkable. There was no history of renal disease in the family. Her height was 166 cm (75th percentile), weight was 56 kg (50th percentile), and blood pressure was 115/65 mmHg (95th percentile 128/ 78 mmHg). There was no evidence of dehydration or edema. Her physical examination was unremarkable. The results of the laboratory examination were: hemoglobin, 8.4 g/dl; leukocytes, 3200/mm; platelets, 184,000/ mm; ferritin, 25 (normal range 11–306) ng/ml; blood urea nitrogen (BUN), 108 mg/dl; serum creatinine, 14.8 mg/dl; sodium, 117 mEq/L; potassium, 13.6 mEq/ L; calcium, 8.93 mg/dl; phosphorus, 16.1 mg/dl; uric acid, 14.9 g/dl. Daily urine volume was 1650 ml/m/ day. The results of her urine analysis were: pH 5, density 1029, leukocyte esterase and nitrite negative and 12 leukocyte/HPF. Neither proteinuria nor hematuria was observed. Although she had hyperkalemia, the T wave, PR distance and QRS complex data were normal on electrocardiography (ECG) (Fig. 1). The laboratory tests were repeated in the intensive care unit (ICU) because this level of serum potassium was considered to be incompatible with life but the ECG findings were normal. Upon admission to the ICU, BUN was 11 mg/dl, serum creatinine was 0.78 mg/dl, sodium was 139 mEq/L, potassium was 4.8 mEq/L, calcium was 9 mg/dl, phosphorus was 4.3 mg/dl and uric acid was 5.8 g/dl. In the meantime, a large number of viable bacilli and cells similar to epithelial cells with a large cytoplasm were observed on peripheral blood smear prepared from the first sample (Fig. 2). Her acute phase reactants were normal, and she was also afebrile. Blood tests performed the next day were similar to those at the time of admission.

An adolescent presenting with acquired acute renal damage: Answers

1. It was realized that the blood tests taken in the presence of the doctor and/or nurses during the day were normal and that those taken at night were pathological. Also, the values of the substances that were high in urine did change. The observation of viable bacilli and epithelial cells in the peripheral blood smear led to the suspicion that urine was mixed into blood samples in the tubes. Upon questioning, her mother admitted adding her daughter‘s urine to the blood samples. 2. The patient and her mother were reported to both the prosecutor’s office and the social services institution. The mother stated that she wanted to protect her daughter and to help her avoid family pressure. The girl’s father was forcing her to marry a man older than herself. The family was living in the east of Turkey and had a traditional patriarchal family structure. In this region, if a girl is perceived to be sick, she cannot be married. Her mother wanted to prevent her daughter from getting married by keeping her ill. The girl was provided with child psychiatry and psychologic support. 3. Cardiac toxicity begins when serum potassium (K) rises above 7 mEq/L. The first finding is a long and pointed T wave. If the serum K level is > 8 mEq/L, P wave amplitude decreases; if the serum K level is > 10 mEq/L, ventricular fibrillation or asystole occurs [1]. The patient’s serum K level was 13.6 meq/L on admission; however, her electrocardiography (ECG) was completely normal. It is very important to evaluate and interpret any patient as a whole, although laboratory tests are very useful tool for the diagnosis of diseases. Rather than just making a dialysis decision based on the results of the laboratory tests, our evaluation that the patient had a good overall condition, together with the ECG and peripheral blood smear findings, led to the correct diagnosis of our patient.

Rhabdomyolysis-associated acute kidney injury: Answers

1. Diarrhea followed by the onset of oliguria and renal failure together with thrombocytopenia brings to mind hemolytic uremic syndrome, which was disregarded as a diagnosis in our patient because of the absence of anemia, normal levels of reticulocyte, lactate dehydrogenase and haptoglobulin and no evidence of hemolysis in the blood smear. Elevated creatine kinase and myoglobin levels are suggestive of rhabdomyolysis and may lead to kidney failure. The causes of rhabdomyolysis are trauma, intense exercise, ischemia, drugs, infectious causes or metabolic diseases [1]. The presence of leukocytosis, elevated Creactive protein and procalcitonin levels bring infectious causes into the forefront as differential diagnoses. Leptospira is an infectious agent that can start with diarrhea and result in icterus and hepatomegaly [2]. 2. Leptospira are Gram-negative bacteria that do not stain well with Gram stain [3]. Dark field microscopy can reveal the presence of a mobile bacillus [4]. Culturing is a method with a very low chance of success, but it is a definite diagnostic method. Two types of serological examination methods can be used. The first one is the macroagglutination method, which is more appropriate for the diagnosis of past infections, but its sensitivity for early diagnosis is not sufficient. The second serological method is the microscopic agglutination test [5]; however, standardization of this test is difficult at high specificity. In addition, a specific study can be performed on serovar. Our patient was positive for Leptospira icterohaemorrhagiae at a titer of 1/800 with microscopic agglutination test. 3. Leptospira reservoirs are rodents, dogs and pigs. There is chronic renal involvement in animals, and bacteria are continuously excreted into the urine. Infection with bacteria occurs by contact with contaminated water or soil [6]. Bacteria enter the body through damaged skin or intact mucous tissue. When the patient, who has a history of swimming in the river, was re-questioned, he reported that he had a cut in his left ankle at that time. 4. In rhabdomyolysis, the basis of treatment consists of fluid replacement and urine alkalinization. Parenteral penicillin therapy for leptospira treatment is recommended in severe cases, while oral doxycycline/tetracycline or ampicillin can be used in patients with a mild course [7]. On admission, our patient was started empirically on ceftriaxone treatment, and doxycycline was added to the treatment during follow-up. Two sessions of renal replacement therapy were performed during follow-up. Serum creatinine level and platelet count returned to normal on the sixth day of antibiotic therapy, and myoglobin and creatine kinase levels returned to normal on the seventh day, whereas normalization of bilirubin levels took up to 7 weeks. This refers to the article that can be found at https://doi.org/10.1007/ s00467-017-3836-8.

Proteinuria in a male adolescent with hearing loss: Questions

An 18-year-old boy was referred to our hospital due to detection of proteinuria in the urinary analysis. He had no macroscopic hematuria or edema. He reported abdominal pain and burning pain in his feet for 1 year. He denied any recent infectious disease or drug use. A review of his medical history revealed that he had undergone a hearing test 2 years previously based on a warning from his teacher who had noticed that his perception at school had decreased. This hearing test revealed a sensorineural hearing loss of 48% in his right ear and 56% in his left ear. There was first degree consanguinity between his parents. Our patient was the youngest of four children (one older brother and two older sisters). His 23year-old sister (second child of the family) described pain in her hands and feet, with accompanying scaling and shedding on her trunk and extremities since infancy. His paternal grandmother had had a skin condition similar to that described by this sister and had died of renal failure with unknown etiology in her fifties. His paternal and maternal grandmothers were siblings, and the male member of the family, the third child, became tetraplegic in his thirties and had also severe hearing loss (Fig. 1). Physical examination of the patient revealed the following: height, 168 cm (10th percentile); weight, 65 kg (10–25th percentile); non-invasive blood pressure measurement, 115/ 75 mmHg (95th percentile 132/85 mmHg). Examination of his respiratory system revealed no abnormality. He had a 2/6 systolic murmur at the mesocardiac region. No rash was found. The results of his laboratory tests tests were blood urine nitrogen, 10 mg/dl; serum creatinine 0.52 mg/dl; serum albumin, 4.35 g/dl; urinary analysis revealed pH, 5.5; density, 1012 mg/ml; hemoglobin, negative; protein, 3+. Daily urine protein excretion was 1245 mg/day (30 mg/m/h). Urine protein electrophoresis showed 97% albumin and 3% globulin excretion. Serum complement levels and inflammation markers were normal. Renal ultrasonographic examination revealed that both kidneys were large (130mm) (mean normal kidney size for age and height: right 80–107 mm, left 87– 116 mm), parenchymal echogenity was increased at grade I– II and no pelvicalectasis was observed. An echocardiogram showed grade 2 mitral regurgitation with borderline function: left ventricular ejection fraction was 50%. Eye examination was normal. A kidney biopsy was performed to elucidate the etiology of moderate proteinuria accompanied by hearing loss. There were no significant findings except for visceral epithelial cell proliferation observed by light microscopy (Fig. 2); electron microscopy images are shown in Fig. 3.

Rhabdomyolysis-associated acute kidney injury: Questions

A 17-year-old boy was admitted with complaints of diarrhea, vomiting and decreased urinary output. Diarrhea continued for 1 week and occurred five to six times a day. The stool was green and did not contain blood or mucus. Vomiting and oliguria started 2 days before his presentation to our medical institution. He described widespread muscle pain and weakness. There was no accompanying hematuria and weight gain. A detailed history revealed that he had swum in the stream nearby his house 2 weeks before any of the complaints appeared. There was no consanguinity between his parents. On physical examination his height was 170 cm (10–25 percentile), weight was 58 kg (3–10 percentile), heart rate was 96 bpm, and blood pressure was 115/85 mmHg (95th percentile 132/85 mmHg). A diffuse edema on the eyelids and lower extremities, icterus on the sclera and hepatomegaly (liver palpable 2 cm below the costal margin) were detected. Systemic examination did not reveal any additional pathologies. Some of the laboratory values are shown in Table 1. The results of the laboratory examinations and blood smears did not support hemolysis. Urinalysis revealed a urine pH of 5.5, density of 1011, glucose 1+, protein 1+, hemoglobin 3+; microscopic examination revealed 49 leukocytes/high-power field (HPF) and 211 erythrocyte/HPF.

Urinary system obstruction in a preterm infant: Questions

A 5-month-old male infant was referred to our hospital due to a decrease in urinary output and difficulty in breathing. The patient had been diagnosed with acute pyelonephritis when he presented with fever and vomiting 45 days previously at another medical center, where he was hospitalized and treated with several broad-spectrum antibiotics (amikacin, ceftriaxone, piperacillin, tazobactam, meropenem and vancomycin) due to urosepsis. An ultrasound (US) scan performed at that time showed an increase in bilateral renal length and parenchymal echogen i c i t y and the p r e s ence o f mi l l ime t r i c echogenicities in the renal pelvis. Two days prior to his referral to our hospital, urinary output progressively decreased, and he started to gain weight. He showed no signs of fever, vomiting or diarrhea, and there was no change in urine color. According to his medical history, he was born at 26 weeks of gestation and had a birth weight of 680 g; there was no consanguinity between his parents. He was hospitalized in the neonatal intensive care unit for 2.5 months. He had been intubated for 45 days during that time, and an umbilical catheter had been placed. He had been fed with formula in addition to breast milk. Apart from vaccination for hepatitis B, he had not been vaccinated for other diseases. On physical examination at the time of admission to our hospital’s emergency service, he had hypertension (100/60 mmHg; age-specific 95th percentile 87/ 68 mmHg), tachycardia (152 bpm) and tachypnea (72 /min). His height and weight were below the 3rd percentile after adjustment for age (length 43 cm, weight 2.7 kg). A diffuse edema on the eyelids and lower extremities, fine rales at the base of both hemithoraxes and a 3/6 pan-systolic murmur at all foci were detected. He had severe abdominal distention, and both kidneys were readily palpable. No genitourinary abnormalities were detected. Laboratory examinations yielded the following results: hemoglobin 9.0 g/dL (normal 12–16 g/dL), leukocytes 21.700/mm (normal 4800–10,800/mm) (absolute neutrophil count 15.500 /mm), thrombocytes 203.000 /mm (normal 150,000–450,000/ mm), C-reactive protein 21.7 mg/dL (normal 0–0.5 mg/dL), procalcitonin 32 ng/ mL (normal 0–0.5 mg/dL), blood urea nitrogen 55 mg/dL The answers to these questions can be found at http://dx.doi.org/10.1007/ s00467-015-3243-y.