Renal involvement in primary Sjogren syndrome of childhood: case report and literature review.

Renal tubular acidosis (RTA) is common in adults with primary Sjogren syndrome (pSS) but to date this condition has only been identified in 12 pediatric cases of pSS. Here we present the case of a 13-year-old, otherwise asymptomatic girl in whom the search for the etiology of incidentally found nephrocalcinosis led to diagnosis of distal RTA and nephrogenic diabetes insipidus secondary to SS-associated tubulointerstitial nephritis. Immunosupressive treatment and alkali/electrolyte supplementation resulted in stable renal function over the 6-year follow-up. A review of the literature focuses on two aspects of pSS: (1) the difficulties in diagnosing pSS in childhood and (2) clinical-pathological features, treatment and outcome of renal tubulointerstitial disease in childhood pSS. SS should be considered in older children, particularly females with otherwise unexplained RTA. A careful search for other renal dysfunctions is necessary, and renal biopsy may be of value in assessing the extent of renal damage and the need for immunomodulatory therapy.

Diagnostic role of initial renal cortical scintigraphy in children with the first episode of acute pyelonephritis.

OBJECTIVE: Assessment of the first febrile urinary tract infection (UTI) in children has been the subject of debate for many years. Diagnosis of acute pyelonephritis (APN) is usually based on clinical and biological data. The clinical usefulness of early Tc-99m DMSA scintigraphy remains controversial, although it may influence the type and duration of treatment. The aim of this study was to assess the role of initial cortical scintigraphy in the detection of early renal parenchymal damage in children highly suspected of having APN and to compare the scintigraphic findings with selected clinical/laboratory parameters and ultrasonography. METHODS: A prospective study was conducted in 34 infants and young children (18 boys, 16 girls), aged 1.5-36 months (mean 9.8 ± 8.7 months), hospitalized with a first episode of clinically suspected APN. Within the first 5 days after admission, Tc-99m DMSA renal scintigraphy, ultrasonography (US), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), white blood cell count (WBC) and urine analyses were performed. RESULTS: DMSA scintigraphy showed changes consistent with APN in 27/34 (79%) patients, with a mean age of 10.9 months, including 12 males (44%) and 15 (56%) females. Out of 9 febrile children with negative urine culture and supportive evidence of UTI, scintigraphy showed parenchymal involvement in 8 children (24% in the whole group, 30% in scintigraphically documented APN). There were no statistically significant correlations between the frequency or size of the initial scintigraphic abnormalities and age, sex, body temperature, CRP levels or ESR. A CRP level of >54 mg/L and a WBC of >13,300/mm³ had sensitivities of 56 and 59% and specificities of 86 and 71%, respectively. US showed changes consistent with APN in 7/34 (21%) in the whole group and in 7/27 (26%) patients with positive cortical scan (p < 0.05). CONCLUSION: Initial DMSA renal scintigraphy is a sensitive method for the early diagnosis of APN in young children and is useful in the assessment of the severity of kidney injury even in patients with negative urine culture. Clinical, biological and ultrasound parameters do not identify children with renal damage. Normal DMSA study, excluding parenchymal involvement and late sequelae, could minimize the use of scintigraphy in the follow-up and reduce the redundancy of cystography.

[Congenital nephrotic syndrome].

INTRODUCTION: Congenital nephrotic syndrome is usually presented with heavy proteinuria, hypoproteinaemia, oedema and hyperlipidaemia in a child from its birth until the age of 3 months. Aetiology of the disease is mutation in the relevant gene or it develops secondary to various infections. The most common form of congenital nephrotic syndrome is caused by mutation in gene for nephrin, the most important protein of the slit diaphragm. CASE OUTLINE: We present the patient with the clinical and laboratory signs of nephrotic syndrome expressed in the first day of life. Despite the adequate and regular substitution, antiproteinuric and antithrombotic therapy, complications occurred and the patient deceased. Genetic analysis revealed homozygous mutation in gene for nephrin (614del8ins2TT). Three years later, in the patient's mother who was in the 12th week of pregnancy at that time, biopsy of chorionic villi was performed and the foetal genetic material showed heterozygosity for the same recessive mutation which meant that the foetus had the status of a carrier. To the best of our knowledge, this is the first family in Serbia in which prenatal molecular--genetic testing for the congenital nephrotic syndrome was accomplished. CONCLUSION: We wish to stress the importance of molecular diagnosis in patients with congenital nephrotic syndrome in order to perform early prenatal diagnosis in future pregnancies.