肾病综合征儿童矮身材的机制与治疗

原发性肾病综合征(PNS)是儿童常见肾脏病。糖皮质激素及其他免疫抑制剂的广泛应用使肾病综合征的治愈率及生存率得到了显著的提高。但肾病综合征自身复杂的病理生理机制及糖皮质激素等免疫抑制剂的长期使用导致了肾病综合征患儿生长发育迟缓问题越显突出,而儿童时期生长发育对成年后的身高具有重要影响。对于PNS儿童矮身材的防治目前尚无系统的成熟的方案,应用重组人生长激素治疗矮身材儿童是目前的主要手段,但其安全性及有效性仍需要进一步的研究给予证实。     

Bone mass of young and adult patients with turner's syndrome

Bone mass was measured by digital image processing method in 114 X-ray hand films of 57 Turner's syndrome, in comparison with 120 normal and 5 hypopituitary female sujects. The cross-sectional mean bone mass of untreated Turner's syndrome aged 12–14 years and 14–16 years was 1.65±0.26 and 1.82±0.18 mm aluminum (Mean±SD), respectively. These are significantly lower (P<0.01) than those (1.94±0.29 and 2.28±0.25) for normal female children of the same chronological age. When the mean bone mass is obtained according to the bone age, that of Turner's girls (6 to 16 years) did not differ from that of the controls. The mean bone mass (2.36±0.27) of 14 adult Turner's patients (23.7±2.4), who had been given sex hormone since 16 years of age, was significantly (P<0.001) lower than that (2.74±0.17) of 21 normal female age-matched subjects. Five Turner's patients with spontaneous puberty showed normal bone mass, when compared with normal subjects of the same bone age. It is not likely that human growth hormone, per se administered in the past contributes to the development of bone mass. These results suggest that replacement therapy should be initiated before 16 years of age for the increase of bone mass in patients with Turner's syndrome.     

Renal focal tubulointerstitial fibrosis with short bowel syndrome: report of a case

We report a male patient with short bowel syndrome (SBS) and renal focal tubulointerstitial fibrosis (FTIF). Seven years after surgery, he was introduced to us due to severe undernutrition, an impairment of growth hormone (GH) secretion, and abnormally low levels of plasma citrulline and arginine at 11 years 7 months of age, just before nutritional support using total parenteral nutrition (TPN) was begun. Thereafter, the support was changed to home TPN with GH supplementation. After an improvement of the disorders, GH was stopped at 17 years 3 months of age. However, hyperuricemia appeared and a renal biopsy revealed FTIF at 20 years of age. Home TPN was continued twice a week because the plasma arginine level was still low. His follow-up biopsy at 23 years of age showed morphometric amelioration. Arginine deficiency following SBS may be associated with FTIF. The cause of hyperuricemia after SBS therefore needs to be investigated in detail. Received: April 23, 2001 / Accepted: January 8, 2002     

短肠综合征康复治疗的实验与临床研究

目的 研究生长激素对大部小肠切除后残存小肠粘膜增殖活性的影响;评价短肠康复治疗的临床疗效。方法 利用病理图象分析、流式细胞分析、免疫组化法和ＲＴ－ＰＣＲ法观察比较对照组（假手术组）、短肠组（８０％小肠切除）和生长激素组（８０％小肠切除加１Ｕ．ｋｇ＾－１．ｄ＾－１生长激素皮下注射２８ｄ）ＳＤ大鼠小肠粘膜的增殖状况。观察肠康复治疗（肌注生长激素８～１２Ｕ．ｄ＾－１加静脉滴注加谷氨酰胺０．６ｇ．ｋｇ＾－     

小儿激素依赖性肾病综合征长期激素治疗对生长发育的影响

目的探讨难治性肾病综合征及糖皮质激素治疗对小儿生长发育的影响，增强对小儿肾病综合征生长发育迟缓的防治意识。方法针对1例病情长期未得到良好控制的激素依赖性肾病综合征并发垂体性侏儒症的患儿成功诊治经验，回顾分析激素依赖性肾病综合征对患儿生长发育影响的相关文献。结果肾病综合征疾病本身及糖皮质激素长期应用都会对患儿生长发育造成影响，具体机制还不清楚。结论在治疗小儿肾病综合征时，应尽可能对初发病例采用较短疗程的治疗方案。对此患儿应避免长期使用激素，可换用其它免疫抑制剂，并注意监测身高和生长速度，必要时可加用毕长激索治疗．     

Growth from birth to adulthood in a patient with the neonatal form of bartter syndrome

Growth from birth to the age of 19 years was studied in a patient with the neonatal form of Bartter syndrome. The initial modes of therapy (extra fluid, potassium supplements and triamterene) resulted in satisfactory but not optimal growth. Treatment with spironolactone together with potassium led to impressive catch-up growth. When the patient reached the age of 9 years, indomethacin therapy was started, which resulted in a second growth acceleration and was also accompanied by a significant reduction of both polyuria and hypercalciuria. Puberty developed normally, menarche occurred at 12 years 4 months and a normal adult height of 162 cm was reached at the age of 14 years. Treatment with prostaglandin synthetase inhibitors seems to be the best therapy for children with the neonatal form of Bartter syndrome.     

Bartter syndrome complicated by immune complex nephropathy

The unusual coincidence of Bartter syndrome and C1q nephropathy is described and the literature reviewed. An African-American girl presented at 4 years of age with acute hyponatremic dehydration and failure to thrive. Persistent hypokalemic alkalosis and secondary hyperaldosteronism were found. The case was atypical for Bartter syndrome in that proteinuria (0.19 g/day) was present. Renal biopsy showed juxtaglomerular hyperplasia and C1q nephropathy. Molecular analysis showed deletion of the renal chloride channel gene (CLCNKB) typical of autosomal recessive childhood Bartter syndrome. Chronic sodium and potassium chloride replacement therapy together with indomethacin normalized her metabolic status, and she experienced catch-up growth. Proteinuria persisted, however. This is the first documentation of C1q nephropathy, in mild form, complicating autosomal recessive Bartter syndrome. This case shows the importance of the renal biopsy and of molecular analysis in delineating the cause of atypical nephropathy associated with Bartter syndrome. These findings add to the evidence of a possible association between the congenital syndrome and acquired immune complex nephropathy.     

A case of hypopituitarism accompanying Kearns–Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review

Kearns–Sayre syndrome (KSS) is a disorder caused by mutations in mitochondrial DNA. Here, we report an unusual case of Kearns–Sayre syndrome accompanied by hypopituitarism (deficiencies in reproductive and growth hormones). A 20‐year‐old male presented with growth retardation for the last 8 years, as well as the following findings: short stature, delayed puberty, myasthenia, an extraocular movement deficit, drooping eyelids, pectus carinatum and scoliosis. Cerebral enhanced magnetic resonance imaging revealed dysplasias of the pituitary, white matter and cerebellum. Laboratory work‐up showed subnormal testosterone and growth hormone levels, a subnormal testicular volume, sensorineural deafness, pigmentary retinopathy, complete right bundle branch block and left anterior bundle branch block. Pathological examination revealed ragged red muscle fibres. Thus, this rare case involved the coexistence of Kearns–Sayre syndrome and hypopituitarism in a patient. Administration of coenzyme Q10 for the KSS and hormone replacement therapy for the endocrinopathies were performed for treatment of this patient.     

Schinzel–Giedion syndrome

A 2-month-old girl was brought to the Department of Pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month of age. She was the third child of young healthy non-consanguineous parents whose first son was healthy but whose second son had died of 18 trisomy. Physical examination showed midfacial hypoplasia with coarse dysmorphic features, choanal stenosis, remarkable abdominal distention and bilateral talipes equivarus. Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephrosis. Having diagnosed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring was performed to preserve renal functions and to eliminate the urinary tract infection at the age of 3 months.     

Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia)

Alagille syndrome is characterized by the association of chronic cholestasis with a paucity of interlobular bile ducts and a distinctive facies together with cardiovascular, skeletal and eye abnormalities. We examined the kidneys of 26 patients with this syndrome; 22 were under 3 years of age and 4 were 4, 6, 12 and 17 years old, respectively. specitively. Eighteen showed glomerular lesions of variable severity characterized bya mesangiolipidosis. In the 8 lesser affected patients light microscopy (LM) disclosed a fibrillar appearance of the mesangium, and electron microscopy (EM) showed lipid vacuoles widespread in the mesangial matrix. In the 10 patients who were affected to a greater degree LM and EM showed, in addition to the mesangial matrix changes, the presence of mesangial foam cells. Clinical signs of renal involvement were mild in all patients except for one who died from chronic renal failure at 8 months of age. The extent of mesangiolipidosis was not related to age but to the degree of cholestasis, the most severe lesions being observed in patients aged 3, 6, 8 and 14 months. The glomerular lesions observed in Alagille syndrome are strikingly similar to those observed in, adults with lecithin-cholesterol acyl transferase deficiency and other conditions characterized by an increase in plasma lipoproteins rich in free cholesterol and in phospholipids. We conclude that glomerular involvement should be added to the characteristic features of Alagille syndrome. Also we found that the lipid deposition in the glomeruli of patients with Alagille syndrome is related to an abnormal lipid metabolism, which is the consequence of severe cholestasis. The most striking feature of our study is the early detection of the glomerular lesions, contrasting with the lack of overt clinical renal disease. Renal failure may be a major complication for patients with this syndrome in adulthood.Presented in abstract form at the 6th International Symposium of Pediatric Nephrology, Hannover, 29 August-2 September 1983,     

Cerebral salt wasting syndrome distinct from the syndrome of inappropriate secretion of antidiuretic hormone (SIADH)

Summary Two cases with pituitary tumour developed postoperative hyponatraemia which was not caused by inappropriate secretion of antidiuretic hormone. The one case with non-functioning macro-adenoma showed severe hyponatraemia (116 mEq/1) on day 11 after trans-sphenoidal surgery in association with diabetes insipidus (DI). The patient was treated by aqueous pitressin and saline administration to control urinary output and keep positive salt balance at the same time. The other case with GH-producing macro-adenoma showed progressive negative sodium balance with the total loss of 644 mEq resulting in hyponatraemia of 133 mEq/1. This was corrected by additional salt intake. The plasma atrial natriuretic polypeptide (ANP), antidiuretic hormone (ADH) as well as aldosterone levels were normal in the latter case. These patients were considered to manifest primary salt wasting disorder, which should be clearly differentiated from the syndrome of inappropriate secretion of antidiuretic hormone (SIADH).     

Ductal carcinoma in situ in a 27-year-old woman with McCune-Albright syndrome

McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the triad of irregularly edged hyperpigmented macules (café au lait spots); a slowly progressive bone disorder, polyostotic fibrous dysplasia, usually involving the base of the skull and the long bones; and luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty. This case is the first report of a 27-year-old woman with ductal carcinoma in situ (DCIS) and Paget's disease of the nipple associated with MAS. The discussion focuses on two endocrine manifestations of this syndrome including precocious puberty and excess growth hormone secretion. In our patient, both her early puberty and pituitary adenoma, in association with MAS, resulted in excess production and secretion of estrogen and growth hormone. Both of these hormones function to stimulate breast growth and development. We hypothesize they are responsible for this patient's DCIS and Paget's disease of the nipple so early in life.     

Pituitary-gonadal function in women following cyclophosphamide treatment for childhood nephrotic syndrome: long-term follow-up study

Ovarian and pituitary-gonadal function was evaluated in 12 women who were treated with cyclophosphamide for nephrotic syndrome before or during puberty. The mean age at the start of treatment was 8.7 years; the mean total dose of cyclophosphamide was 439 mg/kg body weight; and the mean follow-up time was 12.3 years. The investigations included detailed developmental, menstrual and fertility histories; general and gynaecological examinations; basal levels and follicle-stimulating hormone and luteinizing hormone responses to gonadotropin-releasing hormone, and plasma oestradiol determinations. All patients had normal pubertal development and regular menstrual patterns. Two had borne healthy children. Although hormonal studies did not show obvious ovarian or pituitary-gonadal dysfunction, further follow-up is required to ascertain whether the patients with the most prolonged treatment undergo a premature menopause.     

Thyroid hormone replacement for nephrotic syndrome patients with euthyroid sick syndrome: a meta-analysis

Objective: To assess the efficacy of thyroid hormone replacement therapy for nephrotic syndrome (NS) patients associated with euthyroid sick syndrome (ESS). Materials and methods: The Cochrane library, ISI, Ovid, PubMed, Chinese Biomedicine Database were searched, and reference list of relevant articles were selected. Randomized controlled trials (RCTs) or quasi-RCTs with thyroid hormone replacement on NS patients associated with ESS were included in this analysis. Results: Six trials (329 participants) were included. Meta-analysis showed that thyroid hormone replacement therapy can significantly increase the completely remission rate [OR?=?3.04, 95% confidence interval (CI): 3.04–1.88, p?p?Conclusions: Thyroid hormone replacement therapy significantly increases the remission of ESS in patients with NS.     

Long-term linear growth of children with severe steroid-responsive nephrotic syndrome

The present study was designed to evaluate the risk of permanent linear growth impairment in a selected group of 42 children with steroid-dependent nephrotic syndrome (SDNS) and 14 children with frequently relapsing nephrotic syndrome (FRNS). Longitudinal height measurements were available in all patients from the onset of the disease for a mean follow-up of 11.7±3.5 years. During the prepubertal period, patients lost 0.49±0.6 height SD score (HtSDS) (P<0.001). Twenty-three patients have reached their final height with an average loss of 0.92±0.8 HtSDS from the onset of their disease (P<0.001) and 0.68±0.7 from their target HtSDS (P<0.001). The pubertal growth spurt was mildly delayed in male but not female patients. Steroid therapy, calculated as the mean duration of prednisone (PDN) treatment or as the average cumulative PDN dose, was the only predictor of poor growth evolution. Partial catch-up growth occurred after PDN withdrawal. Children with early onset NS and adolescent patients, who were still receiving PDN after the age of 9 years in girls and 11 years in boys, were at higher risk for HtSDS loss. In conclusion, children with severe steroid-responsive NS are at risk of permanent growth retardation secondary to prolonged courses of steroid treatment.     

Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms

This baby boy was born after a pregnancy complicated by severe polyhydramnios at a gestational age of 28 weeks. Analysis of the amniotic fluid had shown a high chloride content, but normal concentrations of sodium, potassium, and calcium. After birth he displayed extreme polyuria, severe renal sodium and chloride loss, and marked hypercalciuria. Five weeks after birth, his sodium chloride loss turned into renal potassium loss, along with a marked decrease in urine output. All these features are characteristic of the neonatal variant of Bartter syndrome. He was discharged after 11 weeks with oral supplements of sodium chloride, potassium gluconate, and 500 ml of fluid. The follow-up for a period of 6 years showed a surprising evolution: he has no hypokalemic alkalosis, no polyuria, and no hypercalciuria; growth and development are within the normal ranges and, at the time of writing, he is a healthy boy needing no medication and with no medical problems whatsoever. Received June 5, 1997, received in revised form September 30, 1997; accepted October 1, 1997     

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report

Williams-Beuren syndrome is a genetic disorder caused by a heterozygous deletion at 7q11.23. The present report describes a female patient with Williams-Beuren syndrome combined with caudal regression syndrome and two forms of coagulopathy. Besides the typical developmental abnormalities such as mental and growth retardation, a distinctive facial appearance, and cardiovascular anomalies, our patient showed fusion of fourth and fifth lumbar vertebra and a sacrococcygeal agenesis. Blood coagulation tests revealed a deficiency of coagulation factor XI and XII. Magnetic resonance imaging angiography showed multiple vascular stenoses mainly in the abdominal aorta and its major branches as a consequence of the insufficient elastin gene. Previous reports identified a deletion of HLXB9 as a possible genetic cause of the caudal regression syndrome, which could not be identified in the present case. This unusual combination of the above-mentioned genetic disorders has not been published so far.     

Long-term follow-up of a patient with Gitelman's syndrome

The long-term follow-up (from age 6 to 20 years) of a girl with Gitelman's syndrome, who had four hypomagnesaemic-tetanic episodes associated with normal plasma calcium, hypokalaemia and hypocalciuria, is presented. During and after puberty, hypomagnesaemia was of the order of 0.41–0.49 mmol/l and plasma potassium was at the lower reference limit. The long-term clinical course and growth of this patient appeared good, but, magnesium supplementation reduces the risk of tetanic crises.     

Surgically treated Swyer-James syndrome

Because patients with Swyer-James syndrome have almost always been treated conservatively, few reports exist of pathological findings of the lung in this syndrome. We report a case of this rare disease treated surgically and discuss pathological findings. A 36-year-old woman repeatedly contracted bronchitis and pneumothorax since adolescence, until April 26, 1997, when she reported chest pain and dyspnea. Chest X-ray on admission showed left pulmonary collapse with a slight deviation of the mediastinum toward the right. Chest computed tomography showed an apical bulla and emphysematous change in the left upper lobe. Pulmonary arteriography at age 17 showed hypoplasia of left pulmonary artery branches in the left upper lobe. Based on a diagnosis of Swyer-James syndrome, we conducted left upper lobectomy on May 2, 1997. Pathological examination of the resected left upper lobe showed marked emphysematous change, including an emphysematous bulla with destruction of alveolar structure and peribronchiolar fibrosis. No vascular abnormality was recognized in histology. Emphysematous change secondary to repeated bronchiolitis is believed to have led to her repeated pneumothorax.     

靶腺切除治疗异位ACTH综合征

目的　探讨肾上腺切除治疗异位ACTH综合征的临床效果。　方法　异位ACTH综合征 2 3例 ,男 14例 ,女 9例 ,平均年龄 38岁。 2 3例临床表现、生化测定及影像学检查均符合库兴综合征的诊断。行肾上腺全切 16例 ,7例未手术者行氨基导眠能治疗。　结果　 16例行肾上腺全切患者术后库兴综合征症状及体征均有明显缓解 ,1、2及 5年存活率分别为 6 7%、38%及 19% ;7例未手术治疗患者中失访 3例 ,其余 4例无 1例存活 >1年。　结论　双侧肾上腺全切加激素替代疗法是治疗定位困难的异位ACTH综合征患者的一种有效方法。