Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam

PURPOSE: This study investigated the incidence trends and associated factors of type 1 (T1DM) and type 2 diabetes mellitus (T2DM) in children and adolescents under 15 years of age in Busan and Gyeongnam, Korea from 2001 to 2010. METHODS: Medical records of newly diagnosed diabetes patients (n=328; 160 males, 168 females) were collected in questionnaire form from 5 tertiary and 42 general hospitals in Busan and Gyeongnam. RESULTS: The average crude incidence rate of T1DM and T2DM was 2.01/100,000 (95% confidence interval [CI], 1.76-2.28) and 0.75/100,000 (95% CI, 0.60-0.92), respectively. The incidence rate ratio (IRR) of T1DM was 1.31 (95% CI, 1.01-1.69), and that of T2DM was 1.97 (95% CI, 1.25-3.11) in the latter half-decade (2006 to 2010) compared to the early half-decade (2001 to 2005). There were gradually increasing incidence trends in both T1DM and T2DM over the 10-year period (P for trend: T1DM, 0.0009; T2DM, <0.0001). Age-specific IRR was highest in the 10- to 14-year-old group, regardless of diabetes type. In particular, a rapid increase in incidence of T2DM occurred in the 10- to 14-year-old group. IRR for females was 1.07 (95% CI, 0.83-1.38) for T1DM and 1.56 (95% CI, 1.01-2.41) for T2DM. IRR for Busan (urban) was 1.41 (95% CI, 1.09-1.83) for T1DM and 1.49 (95% CI, 0.96-2.30) for T2DM. CONCLUSION: T1DM and T2DM incidence both increased over time in youth under age 15 living in Busan and Gyeongnam; in particular, the incidence of T2DM in adolescents increased more rapidly.

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mutations, insertions, and deletions. Recently, we encountered a 2-year-9-month-old female with sporadic hypophosphatemic rickets. She underwent osteotomy, dental abscess was evident, and there was severe bowing of the legs. A low serum phosphorus level in combination with elevated serum alkaline phosphatase activity and normal serum calcium is suggestive of hypophosphatemic rickets. PHEX gene analysis revealed a splice acceptor site mutation, c.934-1G>T (IVS8-1G>T), at the intron8 and exon9 junction. To the best of our knowledge, this mutation is novel and has not been reported. The results of this study expand and improve our understanding of the clinical and molecular characteristics and the global pool of patients with sporadic hypophosphatemic rickets.

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea / 소아과

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with thyrotoxicosis. Recently, we encountered two adolescent Korean patients with Moyamoya disease associated with Graves' disease who presented with episodic right-sided hemiparesis and syncope. These two girls who had Graves' disease had no history of other diseases or head trauma. A thyroid function test revealed a euthyroid state and a high thyroid-stimulating hormone (TSH) receptor antibody titer at that time. The patients were diagnosed with Moyamoya disease based on brain magnetic resonance angiography and cerebral four-vessel angiography. The patients underwent cranial revascularization by encephalo-duroarterio-synangiosis as soon as a diagnosis was made, which resulted in successful symptom resolution. They fared well and had no additional neurological symptoms as of their last follow-up visits. Here, we report these two cases of confirmed Moyamoya disease complicated by Graves' disease with a review of the literature, and discuss the possible association between the two diseases. To our knowledge, this is the first report in South Korea on Moyamoya disease associated with Graves' disease in adolescents with a euthyroid.

Moyamoya syndrome occurred in a girl with an inactive systemic lupus erythematosus / 소아과

We report the case of a 17-year-old Korean girl with systemic lupus erythematosus (SLE) who presented with sudden weakness of the right-sided extremities and dysarthria. Oral prednisolone was being taken to control SLE. Results of clinical and laboratory examinations did not show any evidence of antiphospholipid syndrome or thromboembolic disease nor SLE activity. Cerebral angiography showed stenosis of the left internal carotid artery and right anterior cerebral artery with accompanying collateral circulation (moyamoya vessels). After the patient underwent bypass surgery on the left side, she recovered from the neurological problems and did not experience any additional ischemic attack during the 14-month follow-up period. This case represents an unusual association between moyamoya syndrome and inactive SLE (inactive for a relatively long interval of 2 years) in a young girl.

Acute Hyponatremia in Pneumonia and CNS Infections of Children

PURPOSE: The option of selecting isotonic rather than hypotonic fluids for maintenance fluid in children has been advocated by some authors. Pneumonia and CNS infections are frequent clinical settings for acute hyponatremia because of nonosmotic anti-diuretic hormone stimuli in children. We conducted the present study to identify the incidence of hyponatremia in pneumonia and CNS infection of children and to determine the importance of maintenance intravenous fluid therapy regimen and other related factors. METHODS: The study included 1,992 patients admitted to the Department of Pediatrics at Pusan National University Children's Hospital between November 2008 and August 2011, who were diagnosed with pneumonia or CNS infections and checked for serum sodium concentration. Their clinical data including laboratory findings were reviewed retrospectively. RESULTS: During the study period, 218 patients were identified to have acute hyponatremia among 1,992 patients. The overall incidence of hyponatremia was 10.9%. The incidence of hyponatremia in encephalitis (37.3%) was highest and the incidence in bacterial meningitis (27.4%), viral meningitis (20.0%), bacterial pneumonia (11.1%), mycoplasma pneumonia (9.2%), and viral pneumonia (6.8%) were in descending order. The mean age was higher in hyponatremic patients than in isonatremic patients. The incidence of hyponatremia was higher in who had 0.18% NaCl in 5% dextrose (D5 0.18% NS) than 0.45% NaCl in 5% dextrose infusion (D5 1/2NS) (9.0% vs. 2.2%). SIADH was identified in 20.5% among hospital acquired hyponatremic patients after adequate evaluation for SIADH. CONCLUSION: We recommend D5 1/2NS rather than D5 0.18% NS as the maintenance fluid given to children with pneumonia or infectious CNS diseases.

Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry

Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid beta-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay, hypertonia or hypotonia, ketotic hypoglycemia, and epilepsy are most frequently reported. In general, patients diagnosed through newborn screening have shown normal growth and development in contrast to those diagnosed as a result of clinically initiated evaluations. Here, the case of an asymptomatic Korean newborn with SCADD identified by tandem mass spectrometry is reported. The patient showed an elevated concentration of butyrylcarnitine detected on newborn screening. Urinary excretion of ethylmalonic acid was elevated by urine organic acid analysis. To confirm the diagnosis of SCADD, a direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Genetic analysis of ACADS showed the following novel compound heterozygous missense mutations: c.277C>A (p.Leu93Ile) on exon3 and c.682G>A (p.Glu288Lys) on exon6. These results will provide further evidence of mutational heterogeneity for SCADD.

A Novel Mutation of the Steroid 5-Alpha Reductase Type 2 (SRD5A2) Gene in a Korean Newborn with Ambiguous Genitalia / 대한소아내분비학회지

The term "disorders of sex development" (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Steroid 5-alpha reductase type 2 deficiency (5alpha-RD2) is an uncommon autosomal recessive disorder of sexual differentiation. It results from impaired conversion of testosterone (T) to dihydrotestosterone (DHT) due to mutations in the steroid 5-alpha reductase type 2 (SRD5A2) gene. It is characterized by a lack of masculinization in XY individuals due to failure to convert testosterone to dihydrotestosterone. More than 40 mutations have been reported in all five exons of the SRD5A2 gene. Here, we report on a 17-day-old Korean newborn who was confirmed to have 5alpha-RD2 by SRD5A2 gene analysis. He manifested micropenis, hypospadia and bilateral cryptorchidism without skin hyperpigmentation. T/DHT ratio after human chorionic gonadotropin (hCG) stimulation was slightly increased and genetic analysis of SRD5A2 revealed compound heterozygous mutations, c.657C > G (p.Phe219Leu) and c.656del (p.Phe219SerfsX60), the former of which is a novel mutation. We report a novel SRD5A2 gene mutation in a Korean newborn with 5alpha-RD2.

The Prevalence and Risk Factors of Overactive Bladder in Korean Children: A Comparative Analysis according to Definition / 대한비뇨기과학회지

PURPOSE: We wanted to estimate the prevalence and risk factors of overactive bladder(OAB) in Korean children who were 5-13 years of age, according to the definition of OAB. MATERIALS AND METHODS: A randomly selected cross-sectional study was conducted on 26 kindergartens and 27 elementary schools nationwide in Korea. There were 19,240 children; a parent was asked to complete the questionnaires, which included items about OAB and the children's voiding and defecating habits. OAB was defined as urgency with or without urge incontinence, and usually with an increased daytime frequency and nocturia(ICCS 2006, group A) or an increased daytime frequency(>8 times/day) and/or urge urinary incontinence with or without urgency (group B); its prevalence and associated factors were investigated. RESULTS: The response rate for the questionnaires was 85.84%. The overall prevalence of OAB was 16.59%(group A) and 18.79%(group B). For groups A and B, the prevalence of OAB decreased with age from 22.89% to 12.16% and from 40.44% to 9.60%, respectively(p=0.0001). The overall rate of wet and dry OAB was 26.97% and 73.03%, respectively. Compared to the normal group, the children with OAB had a higher prevalence of nocturnal enuresis(NE), constipation, fecal incontinence, a history of urinary tract infection and delayed bladder control in both groups A and B(p<0.05). The rate of increased daytime frequency and urge incontinence were 3.69% and 2.31%(p=0.009), and 26.97% and 14.78%(p=0.0001) in group A and for the non-OAB children, respectively; their prevalence in group A decreased with age from 5.04% to 3.06% and from 45.74% to 18.50%, respectively(p=0.0001). CONCLUSIONS: The overall prevalence of OAB in group A for Korean children 5-13 years of age was similar to that in group B. However, the range of prevalence in group B was much more variable than that in group A. NE, constipation, fecal incontinence, a history of urinary tract infection and delayed bladder control may be risk factors for OAB in children.

Two Cases of Thrombotic Thrombocytopenic Purpura in Systemic Lupus Erythematosus

Thrombotic thrombocytopenic purpura(TTP) is a rare but life-threatening multi-system disorder characterized by the classic pentad of clinical features that includes fever, microangiopathic hemolytic anemia, thrombocytopenia, neurologic abnormalities and renal dysfunction. TTP has been rarely reported to simultaneously present with systemic lupus erythematosus (SLE). While it is important to distinguish between the two diseases of therapeutic implication, cases of concurrent TTP and SLE help to elucidate the pathophysiology that underlies each condition. We describe two adolescents with synchronous TTP and SLE, and review the literature.

The Long Term Follow up Study of Newborns with TSH Elevation without Low T4 / 대한소아내분비학회지

PURPOSE: In this study, we aimed to find useful methods for diagnosis and treatment of hyperthyrotropinemia in neonates showing normal T4 and elevated TSH levels in neonatal screening test. METHODS: We retrospectively reviewed the medical records of 16 male and 26 female neonates whose T4 were normal and TSH were elevated in the neonatal screening test from 1994 to 2006. The clinical data, including perinatal history, thyroid function test and radionuclide scannig was analysed. RESULTS: Of the forty-two patients, male was 38.1% and female was 61.9%. Mean T4 and TSH level were 8.61+/-1.55 ug/dL, 49.66+/-36.56 uU/mL respectively. At the recheck, when recalled, TSH were normalized in 8 patients (19.1%), still elevated in 34 patients (80.9%). (99m)TC thyroid scan was performed in 36 cases. The results were normal in 18 cases (50.0%), diffuse enlargement in 11 cases (30.5%), ectopic thyroid, poor visualization, hypoplasia respectly in 11.2%, 5.5%, 2.8%. Fourteen patients (33.3%) had histories of povidone use for umbilical care. Of the 42 patients, 27 (64.0%) cases were treated by thyroid hormone, 15 cases (36.0%) were followed up without treatment. Among 15 cases without treatment, 8 patients showed TSH normalization at 1.5 months, 5 patients at 3 months, one patient at 6 months and one patient at 9 months. Among 27 cases with treatment, 18 cases (66.7%) are being treated, 5 cases (18.6%) are being treated more than 3 years, the 3-years treatment was ended in 6 cases (22.2%), follow up loss was 3 cases (11.1%). CONCLUSION: At long term follow up, TSH was normalized in many patients who showed normal T4 and elevated TSH levels in neonatal screening test. Imaging study such as (99m)TC thyroid scanning was helpful to decide whether to treat with thyroid hormone replacement. To predict longer term prognosis of cases without thyroid hormone replacement, long term follow up of large number of patients is needed.

The Characteristics of Membranoproliferative Glomerulonephritis I Detected from School Urine Screening

PURPOSE:In Korea, the school urine screening program is a useful tool for screening urine abnormalities. It is particularly useful in early detection of membranoproliferative glomerulonephritis(MPGN) I, which frequently progresses to chronic renal failure. In this study, we studied the medical history, laboratory findings, and histologic findings of MPGN I to gain helpful information on early detection and treatment. METHODS:The subjects were 19 children, who were diagnosed with MPGN I from kidney biopsies that were performed in ten nationwide university hospitals because of abnormal urine findings from school urine screening programs conducted from July 1999 to April 2004. We divided the patients into 2 groups, a nephrotic range proteinuria group(n=8) and a non- nephrotic proteinuria group(n=11), and retrospectively analyzed the clinical features, laboratory findings, histologic findings, treatment, and clinical course. RESULTS:The mean age at the first abnormal urinalysis was 10.6+/-2.2 years in the nephrotic proteinuria group and 9.6+/-3.2 years in the non-nephrotic proteinuria group. The mean age at the time of kidney biopsy was 11.3+/-2.3 years in the nephrotic range proteinuria group and 10.4+/-3.2 years in the non-nephrotic proteinuria group respectively. There was no significant difference in the mean age and sex between the two groups. In the nephrotic proteinuria group, 6 children had a low plasma C3 level and in the non-nephrotic proteinuria group, 8 children had a low plasma C3 level, but there was no significant difference between the 2 groups. There was no significant difference in the laboratory test results(including WBC count, RBC count, platelet count and other serologic tests) between the 2 groups except for 24 hour urine protein secretion. There was no difference between the 2 groups with regard to the acute and chronic changes in the glomerulus on light microscopic findings, IgG, IgA, Ig M, C1q, C3, C4, fibrogen deposition on immunofluoroscence findings, and mesangial deposits, subendothelial deposits, and subepithelial deposits on electron microscopic findings. The children were treated with corticosteroids, ACE(angiotensin-converting enzyme) inhibitors, dipyridamole and other immunosuppressive agents. During the course of treatment, there were no children whose clinical condition worsened. Among 19 children, 3 children went into remission (2 in the nephrotic proteinuria group, 1 in the non-nephrotic proteinuria group) and 9 children went into a partial remission(4 in the nephrotic proteinuria group, 5 in the non-nephrotic proteinuria group) on urinalysis. There was no significant difference in the treatment results between the two groups. CONCLUSION:The 73.7% of children who were incidentally diagnosed with MPGN I by the school urine screening program had reduced C3. 42.1% of the children had nephrotic range proteinuria. There were no significant differences in clinical features, laboratory test results, light microscopic, immunofluorescence microscopic, and electron microscopic findings between the nephrotic proteinuria group and the non-nephrotic proteinuria group except for the 24 hour urine protein secretion. Therefore, for early detection of MPGN I during the school urine screening program, we strongly recommend a kidney biopsy if children have abnormal urine findings such as persistent proteinuria and persistent hematuria, or if the serum C3 is reduced.

Effect of combined exercise on metabolic bio-marker in overweight and obese children / 소아과

PURPOSE: The purpose of this study was to demonstrate the effectiveness of combined exercise for 12 weeks on the adiponectin and obesity related variables in overweight and obese children. METHODS: Eighteen children in 5th grade in a certain elementary school in Busan were recruited. They were all overweight or obese children(more than 85 percentile in body mass index). Nine children in the experimental group were given exercises consisting of walking and band resistant training for 12 weeks. Auxological data(including height, weight and body fat mass) and laboratory data (fasting blood sugar, insulin, adiponectin) were checked at baseline and at the 1 week, and at the 4 weeks and 12 weeks stages of their exercise program. Insulin resistance and sensitivity were evaluated indirectly using HOMA index and QUICKI index. RESULTS: Adiponectin gradually decreased until the 4 weeks point and gradually increased thereafter to the starting level at the 12 weeks stage. Body weight, body mass index(BMI) and HOMA index significantly decreased more at the 1 week, 4 weeks, and 12 weeks stages in the experimental group than in the control group. Body fat mass significantly decreased at 12 weeks. The change of insulin was significantly correlated with changes of body weight and BMI. But there was no correlation between changes of adiponectin and changes of insulin. CONCLUSION: Exercise seems to effect the adiponectin concentration. And it might be assumed that exercise increases the adiponectin concentration if it is continued for long time(may be more than 12 weeks). More studies may be necessary to draw that conclusion.

A Case of Acute Renal Failure Caused by Rhabdomyolysis due to Hyperosmolar Nonketotic Coma in Children / 소아과

Hyperosmolar nonketotic coma complicated in diabetes mellitus has been a rare cause of rhabdomyolysis, although increasingly reported recently. Acute renal failure can be complicated in 15 percent of rhabdomyolysis patients, but is rare in the case of rhabdomyolysis caused by diabetic hyperosomolar nonketotic coma. We report a 14 years-old boy with acute renal failure complicated by rhabdomyolysis caused by diabetic hyperosmolar coma.

Report on the Patients Parents' Understanding and the Pediatricians' Understanding of Cryptorchidism: The Optimal Time for Surgical Correction / 대한비뇨기과학회지

PURPOSE: Cryptorchidism is a common congenital anomaly seen in urology practice, and early diagnosis and treatment plays an important role in the prognosis of the disease. This survey was performed to discover how many parents and primary care physicians understand cryptorchidism from the aspect of the optimal time for surgical correction. MATERIALS AND METHODS: 100 pediatricians and 200 parents of the patients who were operated on for treating cryptorchidism in Pusan National University Hospital (PNUH) between the years 2000 and 2004 were enrolled in this survey. We sent out survey letters and conducted individual counseling secessions with using questionnaires that consisted of 11 items for the parents and 12 items for the pediatricians. RESULTS: Most of the parents (62.7%) and a portion of the pediatricians (21.1%) preferred to operate beyond 2 years of age for treating cryptorchidism. For the pediatricians, there was no significant interconnection between the physicians' gender, the post-residentship interval, experience of employment, the practice duration, the necessity of hormonal therapy and the additional studies on the univariated and multivariated analyses (p>0.05). However, with a longer post-residentship interval and practice duration, the pediatricians tended to prefer delayed orchiopexy (p<0.05). For the parents, there was a significant relationship between paternal age, the parents' academic background and income level and the optimal operation time on both the univariated and multivariaged analyses (p<0.05). The younger parents, the more educated parents and the higher income parents showed earlier recognition of cryptorchidism and they preferred earlier orchiopexy (p<0.05). CONCLUSIONS: The education programs and public activities targeting on the parents and the primary care physicians should be emphasized for achieving a better therapeutic outcome of cryptorchidism.

Validity of Bioelectrical Impedance Analysis (BIA) in Measurement of Human Body Composition / 소아과

PROPOSE: Body composition by bioelectrical impedance analysis (BIA) is a very useful method of analysing body composition. BIA is non-invasive, inexpensive, nonhazaedous and reproducible technique. The aim of this study was to determine the level of agreement between body composition measurement by BIA and dual-energy X-ray absorptiometry (DEXA). METHODS: Data was examined in 100 children (male 58; female 42), who visited Pusan National Hospital. Weight (kg) and height (cm) were measured, and body compositions were analyzed with fat mass, lean body mass, body fat percent by BIA and DEXA methods. RESULTS: Comparison of the DEXA and BIA methods showed highly statistically significant correlations in measurement of human body composition (fat mass, lean body mass, body fat percent). CONCLUSION: BIA should be considered as the method of choice in measurement of human body composition, since it's non-invasive, reliable, rapid, nonhazaedous and inexpensive, using portable equipment.

Correlation between Percentage of Body Fat by BIA and Other Obesity Indices / 소아과

PURPOSE: Obesity is becoming a serious health problem in schoolage children and adolescents. There are several parameters to estimate obesity such as body mass index(BMI), skinfold thickness, obesity index and weight for height. Each parameter has some advantages and disadvantages. Bioelectrical impedance analysis(BIA) seems to be a simple, reproducible, objective and cost effective method for fat evaluation. But there are few studies about normal values and effectivenss in children. METHODS: We measured weight, height, BIA and skinfold thickness(triceps & subscapular) in 1,116 children aged 7-18 years(584 males and 532 females). RESULTS: There were statistically high correlations between the percentage of body fat(%BF) measured with BIA and Rohrer index(r=0.041), triceps skinfold thickness(r=0.603), obesity index(r=0.576), subscapular skinfold thickness(r=0.561), BMI(r=0.556) in male. In female, the %BF measured with BIA was highly correlated with BMI(r=0.812), triceps skinfold thickness(r=0.774), subscapular skinfold thickness(r=0.752), obesity index(r=0.735), and Rohrer index(r=0.723). The aging tendency of the %BF measured with BIA was as follows. In males, the percentage of body fat increased steadily until 11 years of age, then decreased afterward. In female, the %BF increased abruptly after 12 years of age until 16 years of age, then slightly decreased afterward. CONCLUSION: Bioelectrical impedance analysis is a useful method of estimating body fat in childhood obesity.

Evaluation of Intellectual Development in Patients with Transient Congenital Hypothyroidism at Early School Age / 소아과

PURPOSE: Thyroxine is the hormone indispensible to the growth and development of infants. We made this study to confirm the influence of temporary depression of serum thyroxine levels on the development of intelligence. METHODS: I adopted as the study group 14 patients diagnosed with depression at the pediatrics department of Pusan National University Hospital from April of 1991 to October of 1997, and selected as the control group 24 infants born with normal functioning of thyroid glands in the same period. From August 18 to September 3 2003, a clinical psychologist carried out Korean Wechsler Intelligence Scale for Children on the patient group and the control group. According to the guidelines, they conducted 12 small tests, gave them marks and expressed the intelligent quotients by the conversion grade in seven articles. RESULTS:The patient group had meaningfully lower grades than the control group in three(similarity, vocabulary, digit scan) out of six articles of the small test of verbal scales, and the former had meaningfully lower grades in two(picture completion, object assembly) out of six articles of the small test of performance scales by K-WISC-III. The I.Q. shows the group of patients was meaningfully depressed in six(verbal IQ, performance IQ, global IQ, verbal comprehension, perceptional organization, working memory) out of seven articles; out of the six articles, the working memory was most depressed. CONCLUSION: Transient hypothyroidism can bring the mental retardation of children, so we think that there should be further studies for appropriate thyroid hormone replacement therapy on these patients.

Guidelines for Childhood Idiopathic Nephrotic Syndrome / 소아과

No abstract available.

Acute Renal Failure / 소아과

No abstract available.

A Case of the Fanconi Syndrome with Nephrocalcinosis

Fanconi syndrome is a generalized functional disorder of the proximal tubule of the kidney and is characterized by aminoaciduria, glycosuria, hyperphosphaturia, dehydration, rickets, and growth failure. Nephrocalcinosis and hypercalciuria are rare manifestations of Fanconi syndrome. There is no case report of Fanconi syndrome complicated with nephrocalcinosis and hypercalciuria in Korea. A 6-year-old boy presented with genu valgum and waddling gaits for about 3 years. There was no family history of renal disease and his physical examination was normal except for genu valgum and corrected cleft lip and palate. Laboratory investigations showed generalized aminoaciduria, glycosuria, hyperphosphaturia, hypercalciuria, and low-molecular weight proteinuria including beta2-microglobulin. Serum 25-OH vitamin D3 was within the normal range, and 1,25-(OH)2 vitamin D3 was elevated. Bilateral renal medullary hyperechogenicity was demonstrated by ultrasonography. Analysis of the CLCN5 gene revealed no mutation. Here we describe a boy with Fanconi syndrome complicated with nephrocalcinosis and discuss the differential diagnosis.