Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur ...

OBJECTIVE: Although many pediatricians pursue renal ultrasonography when patients are noted to have external ear malformations, there is much confusion over which specific ear malformations do and do not require imaging. The objective of this study was to delineate characteristics of a child with external ear malformations that suggest a ...

We report a female infant with Galloway-Mowat syndrome. In addition to the characteristic dysmorphic appearance, neurological anomalies and early-onset nephrotic syndrome, she had arachnodactyly, an observation thus far reported uniquely in Taiwan. Also, her elder sister had the same condition. Renal pathology on light microscopy showed cystic dilatation of the ...

The chronic state of hypovolemia, hypotension, and hypokalemia found in Bartter's syndrome has been shown to lead to a chronic nephropathy, which then can progress toward end-stage renal disease and dialysis. This progression, however, has never been reported for Gitelman's syndrome, a variant of Bartter's syndrome that shows a milder ...

Asperger's syndrome is an autistic spectrum disorder, which has engendered lesser attention in comparison to autism. Recent literature has focused on the involvement of cortical areas of the brain in this syndrome. We report a case of Asperger's syndrome in which an extensive work-up, including neuropsychological, neurophysiological and neuroimaging procedures, ...

Ganser's syndrome is a rare and controversial entity in psychiatric nosology. We report two cases ofGS, one developing in a 12-year-old boy, which had their onset during an episode of mania. After recovery from Ganser's syndrome, these cases were followed-up for two and five years, respectively. Interestingly both these patients ...

We report a 2 months old girl affected by renal hypoplasia, genital abnormalities, syndactyly and a pattern of minor anomalies. Although the pattern of malformations overlaps the Townwes-Brock syndrome and that reported by Green et al in 1996, differential diagnosis was made with other several syndromes including acral and renal ...

Monoclonal immunoglobulin (Ig) deposition diseases are characterized by deposition in tissues of excessive amounts of the Ig, compromising organ functions. Light chain deposition disease (LCDD) and AL amyloidosis are the commonest [Buxbaum 1992]. LCDD is usually characterized by rapidly progressive renal failure with glomerular and tubular deposits of Ig fragments ...

BACKGROUND: Kallmann's syndrome is characterized by anosmia and hypogonadotrophic hypogonadism. Radiographic studies of teenagers and older subjects with the X-linked form of the syndrome have shown that up to 40% have an absent kidney unilaterally. Although this has been attributed to renal "agenesis", a condition in which the kidney fails ...

A 49-year-old-man developed proteinuria in 1978. He was diagnosed as having membranous nephropathy by renal biopsy and was treated with prednisolone. The proteinuria disappeared completely and the treatment was stopped. In 1995, after complete remission, he developed nephrotic syndrome with chronic urticaria and hypocomplementemia. Renal biopsy revealed membranoproliferative glomerulonephritis (type ...

PURPOSE: To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common cause. DESIGN: Observational case series and genetic study. PARTICIPANTS: Two unrelated probands presenting with absent central retinal vessels and 11 available family members. TESTING: Doppler ...

Ascites is a frequent complication of chronic liver disease with severe portal hypertension. Moreover, in the presence of tense ascites, renal dysfunction and hepatorenal syndrome may occur. Unfortunately, there is no explanation that thoroughly describes the complex relationship between the liver and kidney in either physiological or pathological conditions. Nevertheless, ...

Distal renal tubular acidosis is a constellation of syndromes arising from different derangements of tubular acid transport. Recent advances in the biology of urinary acidification have allowed us to discern various molecular mechanisms responsible for these syndromes. This article relates clinical disorders of distal acidification to the underlying defective mechanisms ...

Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with abnormalities in other systems as well. This syndrome is caused by mutations in the PAX2 gene and is transmitted as an autosomal dominant trait. We report a family in which ...

The antiphospholipid antibody syndrome (APS) is characterized by recurrent thrombosis, fetal loss, multiorgan involvement, and the presence of lupus anticoagulant and/or anticardiolipin antibody. When not associated with systemic lupus erythematosus, other collagen diseases, or ingestion of medications, the condition is called primary APS. The kidney may be involved in the ...

This study reviews nine new families with branchio-oto-renal (BOR) syndrome (Online Mendelian Inheritance in Man [OMIM] 113650). Diagnosis was made by studying 10 index cases, and then 22 other previously undetected patients were diagnosed within the nine families. The syndrome consists of conductive, sensorineural, or mixed hearing loss; preauricular pits; ...

Langerhans cell histiocytosis (LCH) is an enigmatic disease usually occurring in children. Tumor lysis syndrome (TLS) is a clinical syndrome associated with severe metabolic derangement and oliguric acute renal failure. In this report, we present the clinical course of an infant with advanced LCH who had TLS develop after chemotherapy. ...

Hermansky-Pudlak syndrome is an uncommon cause of renal dysfunction. Because of the risk of bleeding in this condition, few patients have undergone a renal biopsy. Renal dysfunction has been attributed to the deposition of ceroid pigment in the tubules and interstitial fibrosis. We report a case with renal biopsy findings ...

Rett's syndrome is a rare condition affecting only the girl child. It presents as a pervasive developmental disorder with a remarkable behavioural phenotype. The cause for this remains unknown but genetic factors and brain dysfunction have been implicated. This case report emphasises the importance of being aware of rare yet ...

An autopsy case of a patient with diffuse brainstem glioma associated with Laurence-Moon-(Bardet-)Biedl syndrome is described. The subject was a 25-year-old woman who had been suffering from mental retardation, pigmented retinopathy, obesity, hexadactyly, amenorrhea and renal cysts. She developed dizziness, headache and consequent consciousness disturbance. Magnetic resonance images disclosed marked ...

Renal tubular acidosis is a constellation of syndromes arising from different derangements of tubular acid transport. Recent advances in the biology of urinary acidification have allowed us to discern various molecular mechanisms responsible for these syndromes. This report relates clinical disorders of acidification to the underlying defective mechanisms responsible for ...

Apparent mineralocorticoid excess (AME) syndrome is a rare inherited disorder caused by 11beta-hydroxysteroid dehydrogenase (11-HSD 2) isozyme deficiency in the kidney. This enzyme is responsible for oxidizing cortisol to its inactive metabolite cortisone. An elevated tetrahydrocortisol (THF) and allotetrahydrocortisol (aTHF) to tetrahydrocortisone (THE) ratio in the urine is pathognomonic of ...

We present the case of a 17-year-old woman with a history of bipolar disorder, who developed a clinical syndrome manifested by fever, lymphadenopathy, skin rash, diarrhea, and acute renal failure requiring dialysis after the use of lamotrigine. Renal biopsy showed acute interstitial nephritis (AIN) with focal granulomas. Similarly, colonic biopsy ...

A sudden loss of vision attributable to Purtscher-like retinopathy occurred in a 4-year-old boy with focal segmental glomerulosclerosis and nephrotic syndrome as well as mild chronic renal failure. This retinopathy was bilateral. After treatment with intravenous methylprednisolone, infusion of 20% albumin, and low molecular weight heparin (nadroparin calcium), his visual ...

The Denys-Drash syndrome is defined by the occurrence of combinations of pseudohermaphroditism, nephrotic syndrome with diffuse mesangial sclerosis, Wilms' tumor, and constitutional mutations in the WT1 suppressor gene. Most patients develop end-stage renal failure. Atypical hemolytic uremic syndrome (HUS) is defined by onset of acute hemolytic anemia with fragmented erythrocytes, ...

OBJECTIVE: We examined the pattern of organ system dysfunction, the evolution of this pattern over time, and the relationship of these features to mortality in patients who had sepsis syndrome. DESIGN: Prospective, multicenter, observational study. SETTING: Intensive care units in tertiary referral teaching hospitals. PATIENTS: A total of 287 patients ...

Elucidation of the gene defects responsible for many disorders of renal fluid and electrolyte homeostasis has provided new insights into normal and abnormal physiology. Identifying the causes of Gitelman's and Bartter's syndromes has greatly enhanced our understanding of ion transport by thick ascending limb and distal convoluted tubule cells. Despite ...

BACKGROUND: In Japan the patients with Chinese herbs nephropathy (CHN), aristolochic acids-(AAs) associated renal failure, often present Fanconi syndrome. The aim of this study was to investigate the pattern of aminoaciduria in patients with AAs-induced Fanconi syndrome and to clarify whether it is different from other Fanconi syndromes reported in ...

Thrombotic thrombocytopenic purpura pathologically consists of a thrombotic microangiopathy that classically spares lung tissues. We describe a case of TTP that presented as a pulmonary-renal syndrome. In reviewing the international literature, pulmonary involvement is not as rare as once was thought, and the diagnosis of TTP should be considered in ...

We describe four adolescents with the nutcracker syndrome. In three patients, the nutcracker syndrome was detected through mass urinary screening; the other patient was diagnosed after a sudden onset of dark urine. All patients underwent magnetic resonance angiography (MRA) for diagnosis of the nutcracker syndrome, which revealed dilatation of the ...

We describe a patient with signs and symptoms of classic Bartter syndrome. The patient tested negative for all known genetic abnormalities associated with this tubular disorder. Proteinuria was found within 1 year after the diagnosis of Bartter syndrome. A renal biopsy performed 6 months later, when her kidney function was ...

Acute renal failure due to idiopathic tubulo-interstitial nephritis associated with bilateral uveitis (TINU syndrome) is a rare clinical event, contracted mainly by girls or women. Here we report the clinical follow-up regarding a 22-year-old woman with acute renal failure (creat. clearance 13.5 ml/min) due to idiopathic tubulo-interstitial nephritis documented by ...

We describe a 22-year-old patient with Klinefelter's syndrome associated with unilateral renal aplasia. Unilateral absence of kidney was detected in our ongoing screening for renal abnormalities by renal ultrasound in male hypogonadism. The present abnormality may be a co-existing entity or previously unrecognized abnormality associated with Klinefelter's syndrome since there ...

We report a case of acute interstitial nephritis and fatal Stevens-Johnson syndrome in a 90-year-old woman with amiodarone-induced hyperthyroidism, who had been treated for 5 weeks with propylthiouracil (PTU). On admission, the patient exhibited acute renal failure and generalized macular purpuric eruption. Acute interstitial nephritis and Stevens-Johnson syndrome were diagnosed ...

A 41-year-old woman was admitted to the hospital with severe uremia, hemolytic anemia, and thrombocytopenic purpura. Emergency hemodialysis with plasmapheresis was started in view of consideration of hemolytic uremic syndrome (HUS), which resulted in improvement of renal function and platelet count. Positive antineutrophil cytoplasmic autoantibody specific for myeloperoxidase (MPO-ANCA) suggested ...

Waterhouse-Friderichsen syndrome and bilateral renal cortical necrosis (BRCN) are rare complications of meningococcal sepsis associated with high mortality rates. We describe a 20-year-old man who presented with a 1-day history of fever, chills, malaise, and vomiting. He collapsed in the emergency room, requiring mechanical ventilation and intravenous vasopressors for resuscitation. ...

A 58 year old male heavy smoker presented with intracranial haemorrhage and erythrocytosis. Four aetiologies of polycythaemia--polycythaemia rubra vera (PRV), renal cell carcinoma, sleep apnoea syndrome, and relative polycythaemia--were found to be associated with the underlying causes of erythrocytosis. He did not fulfill the diagnostic criteria for PRV at initial ...

Renal-coloboma syndrome is a developmental disorder involving optic nerve colobomas and renal hypoplasia/insufficiency, which exhibits autosomal dominant inheritance and a highly variable phenotype (OMIM:120330). Mutation in the PAX2 gene was found to result in the renal-coloboma phenotype. We report on an Arab family with autosomal dominant inheritance of a syndrome ...

We describe an infant with severe combined immunodeficiency syndrome and an alpha-thalassemia trait who developed a renal Fanconi syndrome after his first stem cell transplantation. This syndrome consists of a generalized failure of proximal tubular reabsorption, which leads to a large number of metabolic disturbances. The etiology varies from inherited ...

Alport syndrome is a primary genetic disease of basement membranes, manifested clinically as a progressive nephropathy variably associated with sensorineural deafness and a plethora of ocular abnormalities. The long-recognized phenotypic heterogeneity of Alport syndrome may be considered on several levels, including basement membrane biochemistry, basement membrane ultrastructure, the natural history ...

In adults, the term specific pulmonary renal syndrome describes disorders with pulmonary and glomerular manifestations and includes Wegener's granulomatosis, Goodpasture disease, and systemic lupus erythematosus. Nonspecific pulmonary renal syndrome refers to either pulmonary disease complicating glomerular disease, or glomerular diseases following pulmonary disease. Since little is known regarding pulmonary renal ...

The Galloway-Mowat syndrome consists of early onset nephrotic syndrome and central nervous system anomalies. Additional anomalies including hiatal hernias have been reported but are not consistently present. Various renal histopathologic changes have been reported and it is unclear whether these represent heterogeneity within the syndrome or different stages of disease ...

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical manifestations. The most common features of BOR syndrome are branchial, hearing, and renal anomalies. However, many affected subjects have been observed with branchial-cleft anomalies and hearing ...

BACKGROUND: We encountered two cases of Chinese herb-induced Fanconi syndrome in Japan. One component of the chinese medicine was "Kan-mokutsu" (Aristolochia manshuriensis) in which aristolochic acids (AAs) were detected. METHODS: Renal biopsy showed flattening of proximal tubular epithelial cells and paucicellular interstitial fibrosis without glomerular lesions, all of which were ...

Idiopathic myelofibrosis is characterized by bone marrow fibrosis, anemia, leukoerythroblastosis, and extramedullary hematopoiesis in many organs. Renal abnormalities in idiopathic myelofibrosis have been rarely described in the literature and include extramedullary hematopoiesis in the pararenal or retroperitoneal areas resulting in obstructive uropathy and hemtopoietic cell infiltration in tubulointerstitial area and ...

Two cases of unexpected childhood death due to hemolytic uremic syndrome are reported. A 21-month-old girl who was discovered dead in bed following a short illness was found at autopsy to have overwhelming sepsis resulting from transmural colitis. Escherichia coli serotype 0157A was isolated from the intestine, and renal changes ...

Wolfram′s syndrome is usually considered as an autosomal recessive condition, with wide phenotypic variation. The syndrome is commonly called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses. We report a patient with DIDMOAD syndrome with ...

Partial monosomy 10p is a rare chromosomal condition and a significant proportion of patients show features of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). A critical haploinsufficiency region for DGS/VCFS was defined on 10p (DGCR2). We performed molecular deletion analysis of two further patients with partial monosomy 10p, who showed ...

Wolfram's syndrome is usually considered as an autosomal recessive condition, with wide phenotypic variation. The syndrome is commonly called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses. We report a patient with DIDMOAD syndrome with ...

A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopathy, though neonatal seizures were not evident. Serial cranial MRIs showed progressive brain ...