Gene/Protein Disease Symptom Drug Enzyme Compound
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Renal damage in children has been found to be more congenital in origin than was previously thought. Congenital anomalies of the kidney and urinary tract (CAKUT) involve renal dysplasia, renal hypoplasia, urinary tract obstruction and vesicoureteral reflux. CAKUT are sometimes bilateral and different types often coexist. Depending on their types and severity, children with CAKUT often have varying degrees of a reduced number of nephrons at birth. CAKUTare now the leading cause of renal failure in children. Children with renal dysplasia or obstructive uropathy may have abnormal renal tubules, and tend to lose essential water and sodium in urine. This can lead to poor body growth unless they are supplemented with water and sodium. Children with severe ureteric reflux often develop urinary infection and renal scarring. Renal scarring can further increase the risk of renal failure in children who already have other CAKUTand fewer nephrons than normal. Hypertension and proteinuria may develop in children with renal dysplasia and further aggravate renal function unless they are treated. Recent advances in the understanding and management of CAKUT make it possible for children with CAKUT to grow normally, have fewer complications such as urinary infection, have longer renal survival, and survive even with end-stage renal diseases through renal replacement therapy.
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PMID:Medical management of congenital anomalies of the kidney and urinary tract. 1452 48

Ectopic kidneys are frequently associated with primary renal dysplasia or a disturbance of urine transport. Sacral agenesis is defined by the absence of two or more bodies of the lower vertebral and is often associated with a neurogenic bladder dysfunction. A 5-year-old boy with sacral agenesis and a right-sided cake kidney, presented with progredient renal failure caused by recurrent urinary tract infections, incomplete bladder emptying and vesicorenal reflux. After extensive diagnostics, the anatomical situation was explored by laparotomy to find a solution for this complex situation. Despite modern diagnostic tools, the preoperatively estimated renal function of the cake kidney was incorrect. After resecting of the right collecting system and refluxing megaureter out of the cake kidney, anti-refluxive implantation of the left ureter into the bladder was performed and the megacystis was treated by detrusor duplication. After three years, the now 8-year-old boy voids residual free without any signs of urinary tract infection. Renal function and proteinuria have improved. The only medication required is nifedipine (20 mg twice a day) for treatment of the renal hypertension.
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PMID:[Complex malformation: cake kidney with concomitant sacral agenesis]. 1456 43

Acute renal failure in the newborn is a common problem and is typically classified as prerenal, intrinsic renal disease including vascular insults, and obstructive uropathy. In the newborn, renal failure may have a prenatal onset in congenital diseases such as renal dysplasia with or without obstructive uropathy and in genetic diseases such as autosomal recessive polycystic kidney disease. Acute renal failure in the newborn is also commonly acquired in the postnatal period because of hypoxic ischemic injury and toxic insults. Nephrotoxic acute renal failure in newborns is usually associated with aminoglycoside antibiotics and nonsteroidal anti-inflammatory medications used to close a patent ductus arteriosis. Alterations in renal function occur in approximately 40% of premature newborns who have received indomethacin and such alterations are usually reversible. Renal artery thrombosis and renal vein thrombosis will result in renal failure if bilateral or if either occurs in a solitary kidney. Cortical necrosis is associated with hypoxic/ischemic insults due to perinatal anoxia, placenta abruption and twin-twin or twin-maternal transfusions with resultant activation of the coagulation cascade. As in older children, hospital acquired acute renal failure is newborns is frequently multifactorial in origin. Although the precise incidence and prevalence of acute renal failure in the newborn is unknown, several studies have shown that acute renal failure is common in the neonatal intensive care unit. Recent interesting studies have demonstrated that some newborns may have genetic risks factors for acute renal failure. Once intrinsic renal failure has become established, management of the metabolic complications of acute renal failure continues to involve appropriate management of fluid balance, electrolyte status, acid-base balance, nutrition and the initiation of renal replacement therapy when appropriate. Renal replacement therapy may be provided by peritoneal dialysis, intermittent hemodialysis, or hemofiltration with or without a dialysis circuit. The preferential use of hemofiltration by pediatric nephrologists is increasing while the use of peritoneal dialysis is decreasing except for neonates and small infants. Peritoneal dialysis has been a major modality of therapy for acute renal failure in the neonate when vascular access may be difficult to maintain. In the newborn, the prognosis and recovery from acute renal failure is highly dependent upon the underlying etiology of the acute renal failure. Factors that are associated with mortality include multiorgan failure, hypotension, need for pressors, hemodynamic instability, and need for mechanical ventilation and dialysis. The mortality and morbidity of newborns with acute renal failure is much worse in neonates with multiorgan failure. Newborns who have suffered substantial loss of nephrons as may occur in cortical necrosis are at risk for late development of renal failure after apparent recovery from the initial insult. Similarly, hypoxic/ischemic and nephrotoxic injury to the developing kidney can result is decreased nephron number. Newborns with acute renal failure need life-long monitoring of their renal function, blood pressure, and urinalysis. Typically, the late development of chronic renal failure will first becomes apparent with the development of hypertension, proteinuria, and eventually an elevated blood urea nitrogen and creatinine.
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PMID:Acute renal failure in the newborn. 1520 Feb 50

Schimke immuno-osseous dysplasia (OMIM *242900) is a rare autosomal recessive disorder that affects primarily the bone, the immune system, the kidneys, the skin and the vascular system. The patients have intrauterine growth retardation, short stature with short neck and trunk, peculiar clinical phenotype: triangular face, broad nasal bridge, bulbous nasal tip, small palpebral fissures, long upper lip and low hairline. The characteristic features include spondyloepiphyseal dysplasia, hyperpigmented maculae, proteinuria with progressive renal failure, lymphopenia with recurrent infections and cerebral ischaemia. We describe a girl, 5 years old, with short-trunk type of dwarfism (height 75 cm, below 3rd centile), short neck, accentuated lumbal lordosis and protruding abdomen. The patient had peculiar face with a broad, depressed nasal bridge, bulbous nasal tip, and slightly elongated upper lip. The hair was thin and sparse. Numerous pigmented spots resembling lentigines were visible on the trunk and abdomen. Radiographs showed spondyloepiphyseal dysplasia. At the age of 2 years laboratory analyses showed normal growth hormone secretion, normal thyroid function tests, normal female karyotype and no mucopolisachariduria. Since the age of 4 years, several episodes of transitory right-sided hemiparesis with spontaneous recovery, were observed. Seizures occurred at 5 years of age, when the MRI brain imaging showed multiple areas of ischaemia. She also experienced transient nephrotic syndrome, lymphopenia and low IgG accompanied by septicaemia.
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PMID:[Schimke immuno-osseous dysplasia]. 1563 95

Renal artery stenosis (RAS) is a common cause of secondary hypertension, with the activation of the renin-angiotensin-aldosterone system being the pathophysiologic hallmark of the disease. Renovascular hypertension, ischemic nephropathy, proteinuria, and flash pulmonary edema are the main clinical syndromes associated with RAS. The prevalence of RAS is on the rise, owing to an increasing prevalence of diabetes and atherosclerotic disease among our aging population. This rise in RAS prevalence poses major challenges for clinicians making diagnostic and treatment decisions. Although renal angioplasty is of proven benefit in fibromuscular dysplasia, randomized trials in atherosclerotic RAS have not shown any advantage for revascularization over medical therapy in terms of blood pressure control or renal function preservation. Angioplasty and surgical interventions should be reserved for patients with preserved kidney size and hemodynamically significant stenosis.
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PMID:Challenges in the diagnosis and management of renal artery stenosis. 1591 98

Amyloidosis is an uncommon plasma-cell dyscrasia with an incidence of eight patients per million per year. It is often difficult to recognize because of the myriad symptoms and vague nature of the clinical presentation. Symptoms include fatigue, dyspnea, edema, paresthesias, and weight loss. Clinical syndromes at presentation include nephrotic-range proteinuria with or without renal insufficiency, cardiomyopathy, hepatomegaly, symptomatic peripheral neuropathy, and autonomic failure. Recent advances have occurred in evaluation of patients by using the free light chain assay and new prognostic assessments with cardiac biomarkers. Newly developed therapeutic strategies, involving high-dose and intermediate-dose chemotherapy, have evolved in the last 3 years. This paper reviews a diagnostic pathway clinicians can use to diagnose the disorder, assess a patient's prognosis, and logically plan a therapeutic strategy.
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PMID:Amyloidosis. 1602 46

A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mild form of Schimke's immuno-osseous dysplasia was diagnosed as the common cause. This rare, autosomal recessive osteochondrodysplasia is characterised by spondyloepiphyseal dysplasia, facial dysmorphism, T-cell immunodeficiency and progressive renal failure due to focal segmental glomerulosclerosis. In Schimke's immuno-osseous dysplasia, a severe early-onset form and a milder later-onset form can be distinguished on the basis of the clinical course. The patient was treated by fluid and salt restriction, enalapril and later also losartan, which led to a decrease in the proteinuria and an increase in serum albumin concentration. Two years later, the renal function was still normal.
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PMID:[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome]. 1622 78

Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and facial dysmorphism is caused by defects in the SMARCAL1 gene. The gene product is involved in the transcriptional regulation of other genes. A 12-year-old boy of consanginous Turkish descent developed disproportionate short stature from spondyloepiphyseal dysplasia at the age of 6 and nephrotic syndrome at the age of 10 years. Renal biopsy revealed FSGS, the kidney function was normal, T-lymphocytes were diminished without infectious complications, and he has had no cerebral ischemia. Analysis of the patient's SMARCAL1 gene revealed a novel homozygous C1798T transition leading to a R561C substitution. The parents and two healthy sisters were found to be heterozygous. A younger brother, who is also homozygous for the mutation, is clinically asymptomatic and has no proteinuria at the age of 18 months. Still, his CD4 cells are diminished. For SMARCAL1 mutations a clear genotype-phenotype correlation has been reported: severe SIOD with in utero or early-childhood onset leading to end-stage renal disease within a few years is caused by nonsense, frame shift or splice mutations. Many patients die from infections and cerebrovascular insults during childhood. Mild SIOD manifests later and progresses more slowly without infectious or cerebral vascular complications--the underlying defect being missense mutations in all three patients reported so far. The novel R561C missense mutation in our patient with mild SIOD is additional evidence for the genotype-phenotype correlation reported for SMARCAL1 mutations.
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PMID:R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. 1623 66

POEMS syndrome is a rare plasma cell dyscrasia which is characterized by small amounts of monoclonal protein, and a multisystem complex manifested by various combinations of polyneuropathy, organomegaly, endocrinopathy and skin changes. Here, we presented an atypical case of POEMS syndrome with IgG kappa monoclonal protein, chronic demyelinating polyneuropathy, hepatosplenomegaly, hypothyroidism, gynecomastia and severe renal impairment. The finding of IgG kappa type of monoclonal protein in our patient was interesting because the majority of cases were reported to have lambda light chain. Also, the absence of typical skin and bone lesions were atypical. Though speculative, these atypical features may account for the unusual presentation of this case. Our patient rapidly progressed to end-stage renal failure and died of cachexia. Renal involvement in POEMS syndrome is rare but may show substantial clinical and pathological variations. Proteinuria, hematuria, renal dysfunction and renal failure requiring hemodialysis can be seen. The pathogenesis of renal dysfunction is unclear. As a conclusion, POEMS syndrome may present with diverse clinicopathologic manifestations. In this syndrome, renal involvement may lead to end stage renal failure and the course may be fatal due to severe polyneuropathy and wasting.
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PMID:An atypical case of POEMS syndrome with IgG kappa M protein and end stage renal failure. 1630 46

Authors describe a rare cause, diagnostic difficulties and successful therapy of renovascular hypertension in a 12 year-old girl caused by anular stenosis of the intrarenal arterial branch. Activation of the system renin-angiotensin (RAS) is found in all forms of renovascular hypertension at the beginning. Etiologically, stenosis in childhood is caused mostly by renal artery dysplasia, affecting mostly media, and fibromuscular dysplasia. Fibromuscular dysplasia affects middle and distal third of renal artery in 60%, more frequently on right, only in 10% of cases affects segmental branches; one quarter of patients are affected bilaterally. This disease is found predominantly in young women. During clinical course, typical signs include sudden onset of severe and poorly controlled hypertension, renal insufficiency, proteinuria and hypertensive retinopathy. From non-invasive diagnostic approaches, color duplex ultrasound, NMR and CT angiography are important, from invasive ones, digital subtractive angiography and the measurement of plasma rennin activity in renal veins. In therapy, it is percutaneous transluminal renal angioplasty, associated with low mortality and morbidity. The net result of angioplasty is dilation of stenosis, complete restoration of artery lumen and flow and decrease of blood pressure. The best results can be achieved in young patients with fibromuscular dysplasia, more then half can recover completely. Using this method, also our patient has recovered (Tab. 2, Fig. 2, Ref. 7).
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PMID:A successful therapy of renovascular hypertension. 1705 4


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