Dr. J. Karpagam1, Mrs. Pandimeena. P2
1Chief Nursing Officer, Sri Ramakrishna Hospital, Coimbatore.
2Nurse Educator, Sri Ramakrishna Hospital, Coimbatore.
*Corresponding Author E-mail: cno@sriramakrishnahospital.co.in
ABSTRACT:
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive Hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease.
KEYWORDS: Alport Syndrome, Collagen Hereditary Disease, Hematuric Nephritis.
INTRODUCTION:
CASE HISTORY :
Master.Rajalingam15 years old boy. K/c/o Bilateral SHNL/Renal failure since 2 months. He was admitted in a private hospital with c/o breathing difficulty, facial puffiness, and bilateral pedal edema for the past 3 days. On the day of admission, He was conscious but oriented and severe anemia. HB.5.9mg/dl, severe renal failure (blood urea:11.920, serum creatinine;11.0mg/dl, hyperphosphatemia:6.7, proteinuria (2+)Microscopic hematuria (plenty). covid 19 RT PCR Negative. USG abdomen showed RK:7.3cm. Increased echoes, CT reduced. Cardiac assessment done. Echo showed LVEF: 60%. In View of severe renal failure right IJV Catheterization done. And hemodialysis inducted on 29.01.2021.on 08.02.21, patient had 2 episodes of generalized tonic clonic seizures. Neurologist opinion obtained and advised CT brain which showed bilateral occipital hyperintensites. On 09.02.21 around 2.30 am. Patient had decreased response, drowsy, right sided hemiplegia. BP:220/160mmHg. Spo2 :97% with 8lites O2, Patient had 7 sittings of hemodialysis and 2 units of PRBC transfusion done. patient was treated with IV antibiotics (inj.Medtaz4.5gm, Garamycin 80mg).Iv diuretics
BRIEF VIEW:
INTRODUCTION:
The modern era of Alport syndrome can be said to have begun in the 1970s with reports of unique ultra structural abnormalities in glomerular basement membranes of patients with the disease.
These seminal observations initiated a cascade of investigation that led to the identification of collagen IV as the protein locus of Alport syndrome.
The discovery of variants in these genes in Alport syndrome families
And the generation of transgenic Alport mice.
The availability of these mice led to arguably the most important recent development in Alport syndrome research: the demonstration that the natural history of Alport syndrome–related kidney disease can be ameliorated using relatively safe and inexpensive interventions.
Although the interventions currently available are not curative, they can dramatically delay progression to kidney failure, especially if initiated before there is any reduction in glomerular filtration rate (GFR).
Definition:
The consensus definition of Alport syndrome has evolved during the past several decades. In the 1980s, deafness was considered essential for the diagnosis; one study stated “Since Alport emphasized that deafness was an integral part of the syndrome, we suggest that the eponym Alport’s syndrome should be reserved for patients affected with the same disease as Alport’s family.”
Male patients with Alport syndrome were characterized as developing kidney failure in their teens or early twenties.
In 80% of cases, Alport syndrome is inherited in an X-linked pattern and caused by COL4A5 gene mutations, although other inheritance. Alport syndrome is caused by disease-causing variants in the DNA sequences of specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a disease-causing variant in the DNA sequence of genes of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.
Achieving Early Diagnosis of Alport Syndrome:
Urinalysis is an extremely effective method of screening for Alport syndrome. All males with X-linked Alport syndrome, as well as all males and females with autosomal recessive Alport syndrome, have persistent microhematuria. In females who are heterozygous for X-linked Alport syndrome, the likelihood of microhematuria is 95%, although it may be intermittent.
The risk for developing chronic kidney disease (CKD) in these individuals is uncertain but is probably lower than for those with microhematuria. Consequently, screening urinalyses of at-risk family members should be carried out whenever the diagnosis of Alport syndrome is made.
Alport syndrome should be in the differential diagnosis of patients with persistent glomerular hematuria, whether identified by routine urinalysis, presentation with gross hematuria, or discovery of microhematuria during evaluation for possible urinary tract infection or other urinary tract disorders. The absence of a family history of hematuria or CKD does not rule out Alport syndrome. Approximately 12% of children with X-linked Alport syndrome have de novo variants.
Clinical data were collected from our patients, including the age of onset, age at diagnosis, duration from onset of symptoms to diagnosis, hematuria, proteinuria, estimated glomerular filtration rate (eGFR), extra renal symptoms and FH. Moreover, the renal histopathological findings obtained by light microscopy (LM) and electron microscopy (EM), immunofluorescence staining and IHC staining of type IV collagen were also extracted for subsequent analysis. ECG shows sinus tachycardia, cardiomegaly, and 60% bilateral pleural effusion.
Unfortunately, there is no specific treatment for Alport syndrome. Treatment is focused on limiting the progression of proteinuria and kidney disease. Options include angiotensin-converting enzyme inhibitors (ACEi), Angiotensin receptor blockers (ARBs) for the management of proteinuria, hypertension, and CKD management. Depending upon the degree of proteinuria, diuretics can be used. Although the treatment may delay the onset of renal impairment, most people affected by Alport's will ultimately require dialysis or a kidney transplant. Patient treated with hemodialysis and PRBC Transfusion was done. Patient was treated with IV antibiotics (inj.Medtaz4.5gm, Garamycin 80mg).Iv diuretics.
He use of cyclosporine has not shown any benefit and is not recommended. For the patients with ocular involvement, specifically anterior lenticonus, clear lens phacoemulsification with intraocular lens implantation can be considered. For patients with concomitant hearing loss, hearing aids are usually very effective. The hearing loss is not impacted by kidney transplantation. As with any hereditary disease, psychosocial support for all of the affected family members is important Patients with Alport syndrome have no contraindication for renal transplantation.
Alport syndrome affects multiple organ systems. It can lead to the following complications:
· ESRD
· Hearing loss
· Visual defects
· Leiomyomatosis (smooth muscle overgrowth in the respiratory and gastrointestinal tract)
· Aneurysms of the thoracic and abdominal aorta
· Mental retardation
In the X-linked disease form, the most common type of Alport syndrome, about 50% of males require dialysis or kidney transplantation by age of 30 years, and approximately 90% develop ESRD before 40. Female patients with X-linked Alport syndrome have a better prognosis with about 12% developing the end-stage renal disease (ESRD) by age 40. By age 60, this rate increases to about 30% and by 60 years of age, the rate of ESRD approaches 40%. In the female
To sum up, given the importance of early diagnosis and economic factors, the multi-pronged approach is adopted in this study to diagnose AS and estimate the risk of progression. In condition-limited settings, it is important to follow a pragmatic approach. In addition, the Japanese criteria do improve our diagnosis. RAAS inhibitors have been testified to show safety and efficacy in delaying renal progression. Patients receiving renal transplantation have excellent outcomes, along with favorable graft survival rates. Future therapies are on the way to change the “inevitable” outcome of the disease.
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Received on 23.02.2021 Modified on 19.03.2021
Accepted on 16.04.2021 © AandV Publications all right reserved
Int. J. Nur. Edu. and Research. 2021; 9(3):373-375.
DOI: 10.52711/2454-2660.2021.00087