Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review / 北京大学学报(医学版)

This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function. Four serum biomarkers of hepatic fibrosis were all elevated and the urine test for an early detection of the renal injury was positive. The genetic sequencing proved two heterozygous missense mutations of polycystic kidney and hepatic disease 1 (PKHD1) gene, c.9292G>A and c.2507T>C, inherited from each of his parents respectively. The former was a novel mutation that had been verified as disease causing through the predicting software while the latter had been reported from one recent case study on Chinese twins, which was possibly unique among Chinese population. The relations between the gene type and the clinical phenotype were not clarified yet. Up till a follow-up eleven months later after the discharge, the patient had a normal hepatorenal function without occurrence of any severe complication yet. The clinical symptoms of Caroli syndrome with ARPKD at infant stage were atypical and the enlargement of liver and kidney was usually the sole symptom. From the above systematic retrospective clinical analysis, as well as the relevant literature review, it's been concluded that the features of the hepatorenal images in patients with Caroli syndrome and ARPKD were distinctive. Genetic testing combined with the imaging study benefits a definite diagnosis as well as a differentiation from other hepatorenal fibrocystic diseases. Specific to the long-term management of this kind of patients, it's necessary to schedule a regular follow-up to monitor the hepatorenal function and the occurrence of various complications for an appropriate intervention, meantime to devote efforts to the genetic counseling work for the patients' family.

Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features and treatment outcomes of cardiovascular system involvement in children with methylmalonic aciduria combined with hyperhomocysteinemia (MMACHC).</p><p><b>METHODS</b>The clinical data of 10 children with methylmalonic aciduria combined with hyperhomocysteinemia and who had cardiovascular system involvement were retrospectively analyzed and the treatment outcomes were followed up.</p><p><b>RESULTS</b>In the 10 patients, there were 4 cases with initial presentations of cardiovascular system symptoms such as shortness of breath and dyspnea, 3 cases with urinary tract symptoms such as edema, hematuria and proteinuria, and 3 cases with nervous system symptoms such as developmental retardation and convulsions. The 10 patients had different types and severity of cardiovascular injuries. After 3 months to 8 years of follow-up, the congenital heart defects resolved naturally in 2 cases, and the patient with arrhythmia had no obvious changes. In 5 cases of hypertension, blood pressures recovered to normal in 3 cases, and 1 case was lost to follow-up. In 5 patients with pulmonary hypertension, 2 died, 2 recovered, and 1 case had mildly elevated pulmonary artery pressure. Seven patients underwent MMACHC gene testing, and 5 showed c.80A>G mutations.</p><p><b>CONCLUSIONS</b>Metabolic disease should be taken into account for the children with unexplained pulmonary hypertension and hypertension with the onset of the shortness of breath and dyspnea. The severity of cardiovascular system involvement might be one of the most important factors affecting the prognosis of children with MMACHC. Cardiavascular system involvement of the patients may be related to MMACHC c.80A>G mutations.</p>

Stevens-Johnson syndrome induced by sodium valproate:a case report and literatures review / 中华实用儿科临床杂志

Objective To explore the clinical diagnosis and treatment of Stevens-Johnson syndrome induced by sodium valproate.Methods The clinical manifestations,investigation findings and treatment of 1 patient with Stevens-Johnson syndrome induced by sodium valproate,and the related literatures were reviewed.Results The patient was a 3.5-year-old girl who was initially diagnosed with epilepsy.After 14 days of monotherapy with oral sodium valproate,an erythematous rash appeared on the face,and gradually spread to her trunk and limbs with severe itching.The rash rapidly got worsened,and developed flakiness and herpetic lesions that involved swelling and ulceration of the lip mucosa.Two days after the rash appeared,she became febrile with body temperature up to 39.5 ℃.Lymphadenectasis and a palpable 2 cm liver edge were found on examination.Her glutamate pyruvate transaminase was 139 IU/L and the concentration of blood ammonia was 108 μmol/L.The administration of sodium valproate was discontinued imme-diately and methylprednisolone intravenous pulse therapy [15 mg/(kg · d)] was administered.Two days later,she was afebrile and the rash gradually resolved within 7 days of treatment.Her liver function also returned to normal.Conclusions A high degree of vigilance against sodium valproate-induced Stevens-Johnson syndrome was crucial to the early clinical diagnosis and successful treatment of this patient.The prompt discontinuation of the causative medication and sufficient corticosteroid hormone therapy can achieve a good outcome.

Clinical characteristics and follow-up study of tachycardia-induced cardiomyopathy in 12 children / 中华儿科杂志

<p><b>OBJECTIVE</b>Tachycardia induced cardiomyopathy (TIC), secondary to various tachyarrhythmias, is a reversible condition which can lead to cardiac enlargement and heart failure. The impairment of both structure and function of heart can be reverted completely or partially if tachyarrhythmias are ceased without delay. This study aimed to explore the clinical characteristics, therapeutic regimen and outcome of TIC in children.</p><p><b>METHODS</b>Clinical data of 12 children with TIC, who came from Peking University First Hospital from Feb. 2003 to Jun. 2009, were retrospectively analyzed and followed up. The echocardiogram data on admission were compared with those from 12 homochronous cases with idiopathic dilated cardiomyopathy matched with 12 TIC cases in age and gender.</p><p><b>RESULTS</b>Atrial tachycardia is the commonest arrhythmia in 12 TIC cases (75%). Four cases underwent catheterization for radiofrequency ablation and all succeeded. The cardiac rhythm of 6 out of 8 cases treated with drugs became sinus rhythm after 3 days to 2 weeks antiarrhythmic drugs treatment. The remaining 2 cases still retained atrial rhythm, but the ventricular heart rates declined to normal. The left ventricular end-diastolic dimensions of the 12 cases were decreased compared with those of pretherapy [(37.5 ± 5.3) mm vs. (43.0 ± 5.7) mm, P < 0.01], and the left ventricular ejection fractions were increased [(60.5% ± 5.6%) vs. (33.7% ± 10.3%), P < 0.01], after (3.4 ± 2.3) months. In our (4.3 ± 2.4) year-follow-up, all cases were fine, except in one case the tachyarrhythmia relapsed because of discontinuation of the drug treatment by her parents. The left ventricular end-diastolic dimensions in 12 TIC cases were smaller than those of the 12 age- and gender-matched idiopathic dilated cardiomyopathy [(43.0 ± 5.7) mm vs. (54.8 ± 7.5) mm, t = 7.9, P < 0.01], and the ejection fractions were higher [(33.7% ± 10.3%) vs. (21.8% ± 7.5%), t = 3.7, P < 0.01].</p><p><b>CONCLUSION</b>The diagnosis of TIC should be considered for the children with tachycardia, cardiac enlargement and cardiac insufficiency. The degree of cardiac enlargement and cardiac insufficiency might be of value for the differential diagnosis between TIC and idiopathic dilated cardiomyopathy. The rhythm control and ventricular rates control could all result in a favorite therapeutic efficacy.</p>

Effects of nitric oxide and hydrogen sulfide on the relaxation of pulmonary arteries in rats / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The balance between vasodilation and vasoconstriction plays a major role in maintaining vascular homeostasis. However, the underlying mechanisms are unclear. More and more evidence suggested that there was an interaction in the regulation of vasorelaxation between nitric oxide (NO) and hydrogen sulfide (H(2)S). We explored the interaction between and effects of NO and H(2)S on the relaxation of pulmonary arteries in rats.</p><p><b>METHODS</b>Seven male Sprague-Dawley rats were anaesthetized with chloral hydrate and the pulmonary arteries of each rat separated for the study of vascular activities. The vasorelaxing activities of pulmonary artery rings in response to different doses of a NO donor, sodium nitroprusside (SNP), or a H(2)S donor, sodium hydrogen sulfide (NaHS), were measured in vitro. When pulmonary artery rings were treated with a cystathionine-gamma-lyase inhibitor, DL-propargylglycine, in the presence of SNP or a nitric oxide synthase inhibitor, N(omega)-nitro-L-arginine methyl ester, in the presence of NaHS, the changes in relaxing activities were analyzed.</p><p><b>RESULTS</b>The relaxation of pulmonary artery rings was in a dose dependent manner in response to either SNP or NaHS. The relaxation rates of pulmonary artery rings increased from (30.90+/-4.62)% to (60.50+/-8.08)% when the concentration of SNP increased from 1 micromol/L to 3 micromol/L and from (26.13+/-4.12)% to (53.09+/-14.01)% when the concentration of NaHS increased from 25 micromol/L to 100 micromol/L. However, when appropriate inhibitor was added, the relaxation responses to SNP and NaHS decreased.</p><p><b>CONCLUSIONS</b>The results suggested that similarly to NO, H(2)S acted as a vasorelaxant either independently of, or synergistically with NO in the regulation of vasorelaxation. The interaction between NO and H(2)S played an important role in regulating relaxing activities of pulmonary arteries.</p>

A study on atrioventricular annular movement in healthy children by tissue Doppler imaging / 中华儿科杂志

<p><b>OBJECTIVE</b>Detecting the atrioventricular annular velocity along the long axis of ventricle by tissue Doppler imaging (TDI) is a useful modality to quantitatively assess global myocardial function. The present study was designed to quantitatively assess ventricular function in healthy children by TDI and to evaluate the clinical effect of growth and echocardiographic parameters on TDI velocities during childhood.</p><p><b>METHODS</b>The study enrolled 242 healthy children aged 3 days to 17 years and they were divided into 8 groups: < 1 month of age group (37 cases), 1 month-of age group (28 cases), 7 months-of age group (21 cases), 1 year-of age group (36 cases), 4 years-of age group (40 cases), 7 years-of age group (26 cases), 10 years-of age group (28 cases) and > or = 13 years of age group (26 cases). Pulsed wave TDI velocities were obtained at the lateral mitral annulus (MA-L), basal septum (MA-S) and lateral tricuspid annulus (TA) during ventricular systole (Sa), early diastole (Ea) and late diastole (Aa), and Ea/Aa and E/Ea were obtained. Conventional echocardiography performed done and the parameters of left ventricular end-diastolic dimension (LVEDD), left ventricular ejection fraction (LVEF), the transmitral and transtricuspid flow E wave and A wave velocities and E/A ratio were obtained. TDI parameters were compared with demographic and echocardiographic variables.</p><p><b>RESULTS</b>Sa, Ea and Ea/Aa were the lowest in children < 1 month of age [MA-L: Sa (4.8 +/- 0.7) cm/s, Ea (6.6 +/- 1.1) cm/s; MA-S: Sa (4.1 +/- 0.6) cm/s, Ea (5.0 +/- 0.8) cm/s; TA: Sa (6.2 +/- 1.2) cm/s, Ea (6.4 +/- 1.0) cm/s], and increased with age. The increase was significant from 1 month- to 1 year-of age group 1 year-of age group: MA-L: Sa (8.5 +/- 2.0) cm/s, Ea (16.3 +/- 2.6) cm/s; MA-S: Sa (7.2 +/- 0.8) cm/s, Ea (12.2 +/- 1.6) cm/s; TA: Sa (12.6 +/- 2.3) cm/s, Ea (14.7 +/- 2.6) cm/s. Ea and Sa of TA reached the older children's value earlier than those of the mitral annulus did. Aa increased in the 1 month-of age group compared to < 1 month of age group and remained stable beyond 1 year-of age group. Mitral annulus E/Ea ratio was high among neonates to 7-months-old children (MA-L: 9.2 +/- 2.1, MA-S: 12.1 +/- 2.9), and decreased with age, and there was a significant decrease in 1 year-of age group (MA-L: 5.9 +/- 1.2, MA-S: 7.8 +/- 1.3). In these healthy children, all the above TDI parameters except Aa were influenced by age, body surface area (BSA), LVEDD and heart rate. The influence of age and BSA showed a logarithm model. LVEDD was the main factor that influenced Sa and Ea of MA-L and MA-S, and it was the only single factor that influenced E/Ea ratio at mitral annulus.</p><p><b>CONCLUSIONS</b>This study demonstrated that the left and right ventricular function developed with age in childhood, and it developed most rapidly during infancy and toddler period. The right ventricular function matured earlier than that of the left ventricle. Cardiac growth, age, and heart rate had important clinical effects on TDI velocities during childhood, and LVEDD had the most important influence on left ventricular systolic and diastolic function.</p>

Analysis of the Etiology of Pulmonary Arterial Hypertension in 276 Children / 实用儿科临床杂志

Objective To investigate the etiology and clinical characteristics of pediatric pulmonary arterial hypertension(PAH) and improve its early diagnosis and treatment.Methods The clinical and echocardiogram data of all inpatients with PAH in Pediatric Department of Peking University First Hospital between May 1995 and May 2007 were retrospectively analyzed for age,sex,etiology,symptoms and echocardiographic measurement of pulmonary artery pressure.Data were divided into groups according to different etiology and statistics.Pulmonary arterial systolic pressure(sPAP) values estimated from the tricuspid regurgitant velocity by Doppler echocardiography were compared among different groups.Cases who were not belonged to the first category of the Venice Clinical Classification of pulmonary hypertension were not included.Results Totally 276 cases,168 boys and 108 girls were diagnosed to have PAH.Age ranged from 1 month to 17 years,median age was 9 months.Most of pediatric PAH was associated-PAH(267 cases,96.7%),while idiopathic PAH took a small part(9 cases,3.3%).Congenital heart disease-associated PAH(CHD-PAH) was predominant(245 cases,88.7%) and left to right shunt was the main lesion (217 cases,88.6%),while complex lesion-associated PAH comprised 28 cases(11.4%).Connective tissue disease associated PAH(CTD-PAH) was the second common among this group of pediatric PAH patients(19 cases,6.9 %).The incidence of PAH in systemic lupus erythematosus(SLE),juvenile rheumatoid arteritis and takayasu arteritis were 10.3 %(13/126),8.7%(4/46),15.4%(2/13),respectively.The other 3 cases of PAH were associated with portal hypertension(2 cases) and thalassanemia(1 case).The estimated sPAP from tricuspid regurgitant velocity in 8 cases with idiopathic PAH[(74.6?23.9) mmHg(1 mmHg=0.133 kPa)]was higher significantly compared with those of 33 cases of CHD-PAH [(58.0?19.7) mmHg ] and 12 cases of CTD-PAH [(49.6?18.9) mmHg] respectively(t=-2.052,-2.609 Pa

Clinical Analysis of 10 Children with Takayasu′s Arteritis / 实用儿科临床杂志

Objective To investigate the clinical features,treatment response and prognosis in children with Takayasu′s arteritis(TA) in order to improve the understanding of TA.Methods A retrospective study of 10 children with TA was performed.All of them were admitted and diagnosed in Peking University First Hospital from Jan.1998 to Oct.2008.The clinical features,laboratory tests,imaging modalities,treatment response and prognosis were all collected and evaluated.Results There were 3 boys and 7 girls in the 10 patients with TA,and the ratio of male to female was 12.3.The onset was from 4 months to 9 years old,with average age at 5.5 years old.The average duration of diagnosis was 7.6 months.The incidences of hypertension,vascular bruits,albuminuria,convulsion were present in 100%,100%,70% and 40%,respectively.The clinical types included typeⅡ(60%),type Ⅲ(10%) and type Ⅳ(30%).The acute phase inflammatory indices of activity such as erythrocyte sedimentation rate(ESR),C-reactive protein(CRP) and white blood cell(WBC) were not evidently increased.Tuberculosis infection was found in 6 out of 10 patients and anti-tuberculosis treatment was performed.Six patients were treated with steroids and 3 cases of them were also given immunosuppressives cyclophosphamide or methotrexate.Three of the 10 patients received anti-hypertensive and vasodilator.Two patients received percutaneous translurminal angioplasty and 1 patient received nephrectomy.One patient died of renal failure,heart failure and shock.Conclusions The patients with TA had high prevalence of tuberculosis infection,diagnosis as often late because of lack of specific clinical features at the acute inflammatory period.When organic ischaemia occurred,treatment response was usually unsatisfactory.Patients with multi-systemic and multi-viscera lesions should have comprehensive examination,especially for those with hypertension,pulseless and vascular bruits,in order to rule out TA.Early ultrasonography,computed tomography and magnetic resonnance image methods are valued in eariler diagnosis and they are the key factors to improve prognosis.

Assessment of Tissue Doppler Imaging on Function of Neonatal Ventricle in Early Stage of Neonatal Period / 实用儿科临床杂志

Objective To assess ventricular function of early stage neonates of different gestational ages by tissue doppler imaging(TDI).Methods Pulsed wave TDI velocities were obtained in 36 cases of premature infants with gestational ages of 32 to 36 weeks(premature group) and 33 cases of full-term infants(full-term group) aged 3 to 7 days at the lateral mitral annulus(MA),basal septum,and lateral tricuspid annulus(TA) during ventricular systole(Sa),early diastole(Ea),late diastole(Aa).Tansmitral and transtricuspid inflow were also obtained through pulsed doppler echocardiography.Results Ea and Sa in all of 3 locations were lower in the premature group compared with that of the full-term group,and Ea/Aa in TA was lower in premature group,but Aa and E/Ea showed no difference between 2 groups.Ea and Sa showed a positive correlation with gestational age and birth weight.Conclusions Ventricular systolic and diastolic function in premature infants are poorer than that in full-term infants in the early stage of neonatal period,and ventricular function is related to intra-uterus growth and maturity of the newborn.Diastolic function of the left ventricle in both groups develops rapidly during the early stage of neonatal period.