Hantavirus species Tula (TULV) is carried by European common voles (Microtus spp.). Its pathogenic potential for humans is unknown. In a rural region of northeast Germany, a 43-year-old man became ill with fever, renal syndrome, and pneumonia. Typing of late acute- and convalescent-phase sera by focus reduction neutralization assay revealed ...

We report the case of a young woman with primary amenorrhea. In her childhood, she suffered from renal failure requesting kidney transplantation at the age of 11. The investigations for primary amenorrhea revealed a hypergonadotropic hypogonadism associated with 46 XY karyotype. The association of primary amenorrhea with renal failure suggested ...

4p-syndrome, or Wolf-Hirschhorn syndrome, is associated with a deletion of chromosome 4p16.3 and involves multiple malformations that result in delayed growth and development and also facial dysmorphism. We report a case of Wolf-Hirschhorn syndrome in a female infant with a 4p deletion, for which the breakpoint was detected at p14. ...

We report a 28-year-old woman who presented with quadriparesis and respiratory failure, and had severe hypokalaemia and distal renal tubular acidosis. She recovered completely on potassium and alkali supplementation. Biopsy and scintigraphy of the minor salivary glands confirmed the presence of Sjogren syndrome. A 6-month course of prednisolone did not ...

Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation. A form of JS that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of JS, called either "JS ...

Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth sign." The current literature on these syndromes ...

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss and renal anomalies. Mutations in the EYA1 gene, a human homologue of the drosophila "eyes absent" gene, are identified as the cause of BOR syndrome.

Leptospirosis is a widespread spirochetal zoonosis caused by the members of the genus Leptospira. The natural history of human leptospiral infection varies widely. The infection can cause a subclinical illness, or may be mistaken for influenza. In individuals who become ill, leptospirosis typically presents as one of two clinically recognizable ...

The purpose of this study was to determine the clinical features, type and severity of musculoskeletal injuries in paediatric age groups in comparison with adult victims of the Marmara earthquake, which occurred on 17 August 1999. Of 151 injured patients hospitalized due to musculoskeletal trauma, 31 (20.5%) were under 16 ...

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 ...

Henoch-Schonlein purpura is a systemic vasculitis syndrome characterized by palpable purpura, glomerulonephritis, arthralgias, and gastrointestinal signs and symptoms. This syndrome typically presents in children between the ages of 4 and 7 years. Renal involvement can be progressive, irreversible, and fatal. Although skin lesions are frequently found on the scrotum and ...

Renal cell carcinoma is characterized by varied manifestations, which include unusual metastatic sites and paraneoplastic and vascular syndromes. We describe the case of a 57-year-old man who presented with high fever, weight loss, palpitations and a tender goitre. We suggest that, in this patient, subacute thyroiditis manifested as a paraneoplastic ...

We report a case of a woman who came to our attention because of hypokalemia, hyperreninemia and hyperaldosteronemia but with normal blood pressure. Under suspicion of a normotensive renal artery stenosis captopril and baseline scintigraphies were performed. Captopril scintigraphy demonstrated a bilateral progressive retention of radiopharmaceutical without significant excretion. The ...

Nonoliguric renal insufficiency is a well-known nephrotoxic consequence of aminoglycosides, although reversible tubular damage in the absence of any change in the renal function has been occasionally found. Reported herein are 2 representative cases of a reversible tubular damage due to prolonged aminoglycoside administration: a patient with a Fanconi-like syndrome ...

Immune-mediated renal diseases can be classified by the clinical syndromes they produce, by the attendant renal pathology, or by the dominant immune effector mechanism of renal injury. The major clinical syndromes produced by immune-mediated renal injury include the nephrotic syndrome, the nephritic syndrome, rapidly progressive glomerulonephritis, and acute renal failure. ...

The occurrence of a post-renal transplant syndrome of lower limbs joint pain has been reported extensively over the last decade. Clinical examination of the symptomatic joints is often unremarkable and magnetic resonance imaging reveals abnormalities of the bone marrow suggestive of edema and/or hemorrhage. The main striking features of this ...

We report two brothers with microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis. The elderbrother showed nephrotic syndrome from 2 years of age and died of renal failure at 8 years of age. The younger brother showed mild proteinuria from 2 years of age, and his renal function was still preserved ...

The study of hereditary RCC syndromes continues to provide significant insight into the pathways that are involved in renal cell tumorigenesis. The clinician should maintain a high level of suspicion for genetic disorders when patients present with early-onset or mult-focal RCC. Recognition of familial syndromes will facilitate the institution of ...

Fechtner syndrome (FTNS), also known as Alport-like syndrome, is a rare inherited condition characterized by progressive nephritis, macrothrombocytopenia, Döhle-like leukocyte inclusions, deafness, and cataract. Although it recently was shown that FTNS derives from mutation of MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA), its pathophysiological characteristics ...

Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts, renal Fanconi syndrome, and mental retardation. Lowe syndrome results from mutations in the OCRL1 gene, which encodes a phosphatidylinositol 4,5 bisphosphate 5-phosphatase located in the trans-Golgi network. As a first step in identifying the link between ocrl1 deficiency ...

Sheehan's syndrome is a rare complication of pregnancy with multiple hormone deficiency. The exact pathogenetic mechanism is not well understood, because such endocrine abnormalities are not obvious in most women with severe hemorrhage. Central diabetes insipidus with fluid and sodium disturbances occurred in about 5% of the patients. [1,2] There ...

Acute multi-organ failure syndrome is a rare and life-threatening complication of patients with sickle cell disease. The syndrome appears to be reversed with prompt, aggressive exchange transfusion therapy. It has been attributed to widespread vascular occlusion due to micro-vascular red cell sickling. We present a case of severe multi-organ failure ...

Acquired reactive perforating collagenosis is a rare skin disorder associated with several systemic diseases, particularly diabetes and chronic renal failure. A 52-year-old Saudi female patient with a known case of diabetes mellitus type II, chronic renal impairment, hypertension, peripheral vascular disease, congestive heart failure, stroke and left hemiplegia presented with ...

Nutcracker syndrome is caused by compression of the left renal vein between the aorta and the superior mesenteric artery, where it courses in the fork formed at the bifurcation of these arteries. The phenomenon results in left renal venous hypertension, which leads to left renal vein and left gonadal vein ...

PURPOSE OF REVIEW: In recent years, there have been significant advances in our understanding of the molecular mechanisms relating proximal tubule abnormalities to the pathogenesis of renal Fanconi syndrome. This review focuses on the role of intra-endosomal acidification-machinery proteins (V-ATPase, CLC-5, NHE-3), as well as apical receptors (megalin and cubilin), ...

Hyponatremia after chemotherapy is not an uncommon clinical syndrome. Both renal salt-wasting syndrome (RSWS) and syndrome of inappropriate antidiuretic hormone secretion (SIADH) have been reported as the underlying mechanisms for chemotherapy-induced hyponatremia. However, these two clinical syndromes have distinct clinical characteristics and managements. The key differential diagnostic feature for RSWS ...

Henoch-Schönlein purpura (HSP) is a common vasculitic syndrome in children who, in most cases, achieve complete recovery. Occasionally, however, patients develop nephritis or nephrotic syndrome with renal failure, or develop significant gastrointestinal bleeding. Pulmonary hemorrhage, found mostly in adolescents and adults, and with a high mortality rate, has been reported ...

Very rarely Stevens Johnson Syndrome develops following drug therapy particularly Lithium and Valproate. Worldwide, the reports regarding Lithium and Valproate induced Stevens Johnson Syndrome are very few. Here, we present two cases of Stevens Johnson Syndrome following treatment with Lithium and Valproate for Mood Disorder.

Antiphospholipid antibody syndrome (APLA) is a syndrome complex characterized by recurrent arterial or venous thrombosis, recurrent fetal wastage, thrombocytopenia and presence in serum of antibodies against negatively charged phospholipids like lupus anticoagulant (LA), anticardiolipin antibody (ACLA) and subgroups. These are classified further as primary (wherein this occurs in isolation) and ...

Hepatorenal syndrome is a life-threatening complication occurring commonly in cirrhosis liver and rarely in acute liver failure. It can be precipitated by shock, infection, surgery, large volume paracentesis or nephrotoxic drugs. Type I hepatorenal syndrome which usually develops over acute liver failure is rapidly progressive and has poor outcome. Type ...

In this study, patients with acute renal failure as a result of crush syndrome after the Marmara earthquake were evaluated retrospectively. Six hundred thirty injured patients were evaluated after the Marmara earthquake at Gülhane Military Medical Academy. Acute renal failure in association with crush syndrome developed in 31 patients. Twenty-nine ...

Cystinosis is an inborn error of lysosomal cystine transporter, resulting in cystine accumulation in lysosomes of all cells. Renal Fanconi syndrome is an early sign of kidney involvement in cystinosis patients. Cysteamine, a small amino-thiol, depletes intralysosomal cystine content and reduces organ damage. However, it does not reverse renal Fanconi ...

Rhabdomyolysis is a syndrome characterized by extended myolysis, elevation of serum aminotransferases and creatine kinase, and myoglobinuria. It is a rare but well-established complication of a spectrum of infectious diseases. Salmonella infections have been connected with this syndrome as well. We present here the case of a 58-year-old female affected ...

Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, ...

The Birt-Hogg-Dubé syndrome, a genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal and colonic neoplasms and spontaneous pneumothorax, but the risk of developing these disorders is unknown. We identified risk factors for renal tumors and spontaneous pneumothorax in 98 patients affected with the Birt-Hogg-Dubé ...

A male patient with bipolar disorder who developed Stevens Johnson Syndrome following treatment with a combination of sodium valproate and lamotrigine is reported. This case report emphasises the importance of being cautious when such a combination is used in patients with associated medical conditions.

Poland syndrome is characterized by unilateral aplasia or hypoplasia of the sternocostal portion of the pectoralis major muscle and ipsilateral syndactyly. In some cases other associated anomalies, including renal malformations, dextrocardia, and vertebral abnormalities, have been reported. We report a 7-month-old girl with Poland syndrome who also presented with ipsilateral ...

Patients with nail-patella syndrome often suffer from a nephropathy, which ultimately results in chronic renal failure. The finding that this disease is caused by mutations in the transcription factor LMX1B, which in the kidney is expressed exclusively in podocytes, offers the opportunity for a better understanding of the renal pathogenesis. ...

Hypokalemic paralysis rarely is seen as the presenting feature in patients with Fanconi's syndrome. We describe a 60-year-old man who presented with the inability to ambulate on awakening in the morning. The pertinent history revealed he had consumed Chinese herbs for leg edema for 5 months. Physical examination was unremarkable ...

In this report we describe a 17 weeks old female fetus with a lumbosacral meningocoele, multicystic renal dysplasia (Potter type IIb) and postaxial polydactyly type A at the left hand and left foot. There was no hepatic fibrosis. Although multicystic renal dysplasia and postaxial polydactyly are often present in the ...

We report three severely disabled children with epilepsy, a 4-year-old boy, 8-year-old girl and 14-year-old girl, who were treated with sodium valproate from the age of 2 months, 3 months and 7 years, respectively, and who developed Fanconi syndrome. All three patients were bed-ridden and fed by means of a ...

Allgrove syndrome (triple-A syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone-resistant adrenal insufficiency, achalasia and alacrima. Aside from the classic features of the syndrome, several abnormalities including mainly neurological abnormalities have been reported in the syndrome. Herein, we presented a case of Allgrove syndrome associated with left renal ...

The molecular basis of many of the inherited disorders of potassium homeostasis has become much clearer in the last two decades. Despite these new insights into the physiology of renal potassium handling, a number of questions remain to be answered. The examples we use to illustrate these issues are Gordon's ...

Normal reabsorption of glomerular filtrate proteins probably requires recycling of the endocytic receptors megalin (gp330) and cubilin. Both receptors are located on the luminal surface of the renal proximal tubule epithelium. Whether abnormal amounts of receptor are present in the urine of patients with Dent's disease, Lowe's syndrome, or autosomal ...

AIM: To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. METHODS: The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. RESULTS: All patients had the typical pattern of arthrogryposis. ...

BACKGROUND: Senior-Loken syndrome is a rare disease that combines familial juvenile nephronophthisis with retinitis pigmentosa. We describe the clinical features of a Japanese patient with Senior-Loken syndrome emphasizing the importance of the ophthalmic findings in determining a correct diagnosis. CASE: A 6-year-old Japanese girl had anemia, mental retardation, and poor ...

Patients with hyperprostaglandin E syndrome/antenatal Bartter syndrome typically have renal salt wasting, hypercalciuria with nephrocalcinosis, and secondary hyperaldosteronism. Antenatally, these patients have fetal polyuria, leading to polyhydramnios and premature birth. Hyperprostaglandin E syndrome/antenatal Bartter syndrome is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for ...

Dhat syndrome is a commonly diagnosed disorder in Indian male patients. Patients present with various physical and mental symptoms which are attributed to the passage of "Dhat"(commonly semen) in urine. A case of an adult female is described who presented with complaints of aches and pains, headaches and poor concentration ...

A 20-year-old woman with IgA nephropathy was admitted to Jikei University Hospital for the treatment of rapid deterioration of renal function after receiving 131I-therapy against hyperthyroidism on October 23,1999, and hemodialysis was started. On admission, she was diagnosed as having Evans' syndrome in addition to known Graves' disease. Renal biopsy ...

We report a 43-year-old female with complete Kearns-Sayre syndrome, focal deficiency of cytochrome-c-oxidase (COX) and extensive deletion of the mtDNA in muscle fibers, which showed progressive insufficiency of the renal tubule: first hyperphosphaturia and hyperaminoaciduria and, later, also glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome to date rarely diagnosed in association ...