Andrea Apicella

Outcomes of a Cohort of Prenatally Diagnosed and Early Enrolled Patients with Congenital Solitary Functioning Kidney

Purpose: We evaluated the clinical course of patients prenatally diagnosed and enrolled early with congenital solitary functioning kidney, and identified the risk factors for renal injury. Materials and Methods: We retrospectively evaluated 322 patients with congenital solitary functioning kidney according to the inclusion criteria of 1) prenatal diagnosis of solitary kidney; 2) first evaluation at 1 to 3 months of life with confirmation of congenital solitary functioning kidney, and evaluation of possible associated congenital anomalies of the kidney and urinary tract by abdominal ultrasound, renal scintigraphy and cystography; and 3) absence of any condition potentially affecting renal function in the neonatal period as well as absence of renal injury at enrollment (1 to 3 months of life) confirmed by a normal estimated glomerular filtration rate, lack of proteinuria and hypertension. Followup of 306 patients was evaluated. Results: Median followup was 7.2 years (range 1 to 23) and 1 or more signs of renal injury were found in 12 of 306 patients (3.9%). Considering the entire population the cumulative proportion of patients free from renal injury at 17 years old was 93.7%, vs 81.3% and 95.9% for subjects with and those without congenital anomalies of the kidney and urinary tract of congenital solitary functioning kidney (p <0.001), respectively. Of congenital anomalies of the kidney and urinary tract, congenital solitary functioning kidney resulted in significant risk factors for renal injury (HR 8.75, 95% CI 2.77–27.65). Conclusions: In an evaluation of a large cohort of patients enrolled early with congenital solitary functioning kidney with a prenatal diagnosis, excluding those with neonatal onset of renal damage, the prevalence of renal damage was 3.9%. Among congenital anomalies of the kidney and urinary tract, congenital solitary functioning kidney represented the major risk factor.

Correlations between enuresis in children and nocturia in mothers.

Abstract Objective. To demonstrate a relationship between enuresis and nocturia. Material and methods. The study investigated 250 mothers (average age 34.6 ± 3.3 years) whose children attended the Department of Pediatrics of the Second University of Naples because they suffered from enuresis. Data were collected by self-reported questionnaire and personal interview. All women provided written informed consent with guarantees of confidentiality. Both the presence of nocturia in adulthood and enuresis in childhood were taken into account. Results. The overall prevalence of nocturia was 38% (n = 95). There was a history of childhood bedwetting in eight mothers (5%) without nocturia and in 61 mothers (65%) with nocturia; the difference was significant (χ2 p < 0.01). Moreover, among the 110 enuretic children of nocturic mothers, 69 (62%) suffered from non-monosymptomatic nocturnal enuresis (NMNE), and 34 (56%) of their mothers suffered from NMNE in childhood. Nocturic mothers suffering from non-monosymptomatic enuresis during their childhood had offspring with a higher risk of developing non-monosymptomatic enuresis (odds ratio 4.3 95%, confidence interval 2.6–7.1, p < 0.01). Conclusions. These findings enabled a close connection between nocturia in adulthood and enuresis in childhood to be hypothesized. Furthermore, this analysis provided evidence of the link between suffering from nocturia, and previously from enuresis, and having children affected by enuresis.

Clinical presentation and metabolic features of overt and occult urolithiasis

Although pediatricians are frequently confronted with patients presenting urolithiasis symptoms without obvious stones, the syndrome of occult urolithiasis may be still viewed with some skepticism. We have compared the clinical and metabolic features of 197 children with obvious calculi, 189 with microcalculi (diameter ≤3 mm based on renal sonography), and 114 with symptoms of urolithiasis and normal renal sonography findings. Only microcalculi and normal sonography subjects with a urinary abnormality potentially leading to urolithiasis were included in the study. Age at presentation increased significantly (p = 0.0001) in the groups in the order normal sonography to microcalculi to calculi groups. There was no significant difference among the three groups in terms of family history of urolithiasis, gender distribution, and degree of hypercalciuria, hyperuricosuria, hyperoxaluria, or hypocitraturia. The average frequency of pain attacks of patients with recurrent abdominal pain (RAP) ranged from 3.6 to 4.6 days of pain per month among the three groups, which is four to ninefold lower than that reported for children with functional or organic gastrointestinal RAP. The consistency of many clinical and urinary metabolic characteristics indicates a common underlying disorder in overt and occult urolithiasis. The increase of age at presentation from the normal sonography to microcalculi and calculi groups may reflect progressive crystal accretion leading ultimately to overt stone formation.

Acute lobar nephritis in children: Not so easy to recognize and manage

Acute lobar nephritis (ALN) is a localized non-liquefactive inflammatory renal bacterial infection, which typically involves one or more lobes. ALN is considered to be a midpoint in the spectrum of upper urinary tract infection, a spectrum ranging from uncomplicated pyelonephritis to intrarenal abscess. This condition may be difficult to recognize due to the lack of specific symptoms and laboratory findings. Therefore the disease is probably underdiagnosed. Computed tomography scanning represents the diagnostic gold standard for ALN, but magnetic resonance imagine could be considered in order to limit irradiation. The diagnosis is relevant since initial intravenous antibiotic therapy and overall length of treatment should not be shorter than 3 wk. We review the literature and analyze the ALN clinical presentation starting from four cases with the aim to give to the clinicians the elements to suspect and recognize the ALN in children.

An infant with hypercalcemia: Questions

A 6-month-old male infant born by normal vaginal delivery (birth weight 3.150 kg, length 49 cm) and affected by hypospadias underwent renal ultrasound scan (Fig. 1). Expert advice was required after an “uncertain renal US report”. The patient suffered decreased appetite, vomiting, constipation, polyuria and polydipsia during the previous 2 months. At our appointment, we found hypotonia, irritability, failure to thrive, anterior fontanelle 1.5×1 cm, and moderate dehydration. His mother reported that the infant was taking no drugs except prophylaxis with vitamin D (400 IU/day). Serum chemistry was as follows: calcium 18.67 mg/dl (normal range, 8.4–10.2 mg/dl), urea 65 mg/dl (10–50 mg/ dl), creatinine 0.45 mg/dl, phosphorus 5.7 mg/dl, Ca×P 106 mg (normal value <55 mg), venous pH 7.38. Na, K, Cl, Mg, HCO3, ABE, glycemia, AST, ALT, γGT, bilirubin, alkaline phosphatase and complete blood count were within normal limits. Urinary electrolyte concentrations: calcium/ creatinine ratio 1.27 mg/mg, uric acid/creatinine 0.45 mg/dl of glomerulor filtration rate, beta2 microglobulin 0.4 mg/l (nv: <0.3 mg/l). ECG, cardiologic and oculistic examination, and blood pressure monitoring were normal. We started hyperhydration (NaCl 0.9 % 7 ml/kg/h) to reduce calcemia. After 12 h, the blood calcium was 15.2 mg/ dl. Therefore we added furosemide (1 mg/kg intravenously twice a day) and methylprednisolone (1 mg/kg once a day). After 4 days of therapy, the blood calcium was 13.8 mg/dl and urinary calcium/creatinine ratio was 2.61 mg/mg. The clinical conditions of the patient improved after 4 days (no vomiting, increased appetite). The serum level of calcium did not decrease after 6 days of therapy with furosemide and methylprednisolone, remaining at 13.8 mg/dl.

Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa

Dent disease 2 (DD2) is a rare X-Linked disorder characterized by proximal tubule dysfunction. It is considered as mild variant of Lowe Syndrome (LS) and both conditions are secondary to OCRL1 gene mutations.1 Mutations in this gene drastically reduce (<10%) inositol polyphosphate 5-phosphatase (OCRL1) activity.1 This article is protected by copyright. All rights reserved.

From oliguria to urinary incontinence: a case of Munchausen's syndrome in an adolescent boy.

Abstract Factitious disorders are characterized by physical or psychological symptoms that are intentionally produced or feigned in order to assume the sick role. “Munchausen’s syndrome” is one of these disorders and often is under-recognized or only suspected after unnecessary investigations. We report the case of a 15-year-old boy who came to our notice because of reduced urine output and recurrent abdominal pain during the previous 3 months. The patient attended several emergency room visits and he had been hospitalized for 1 month in an adult internal medicine department because of “oliguria”. He had undergone several invasive investigations with normal results before the diagnosis of Munchausen’s syndrome was made. General pediatricians and practitioners should be aware that suspecting Munchausen’s syndrome in the first instance in the management of a patient showing discrepancies between reported urinary symptoms and the detectable clinical signs could avoid unnecessary and invasive exams.

An infant with hypercalcemia: answers.

The US scan shows stage 2b nephrocalcinosis. Nephrocalcinosis (NC) is defined as an increase in the calcium content of the kidneys. Sonographic staging of NC according to Hoyer [1] is as follows: stage 1 : echogenicity of medullary pyramids slightly higher than that of cortex; stage 2a : white garlands at the border pyramids; stage 2b : markedly increased echogenicity of whole pyramids without acoustic shadowing; and stage 3 : intense echoes throughout the medulla with acoustic shadowing. NC is not a uniform entity, but rather a complication of various renal disorders, metabolic disturbances, and the administration of drugs [2]. The aetiology and clinical significance of NC remains largely unclear and its prognosis is uncertain. Hypercalciuria appears to be the most common abnormality associated with NC [3, 4]. Since the introduction of renal ultrasound (US) technology, NC has been recognized more frequently, but reports in children have been restricted to relatively small series [1, 5–9].