Primary hyperoxaluria: a case series.

BACKGROUND: Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the excessive production and accumulation of oxalate. We present five cases of PH, each exhibiting varying manifestations of the disorder including a case presenting as postpartum kidney failure. Notably, three of these cases involve a previously unreported mutation. CASE PRESENTATIONS: We evaluated five Indian patients who presented with varying manifestations of PH. The first case, a 30 year old woman, presented as post-partum kidney failure and was found to be having oxalate nephropathy precipitated by dietary oxalate overload in the setting of previously undiagnosed PH. Genetic analysis revealed a previously unreported mutation in the alanine-glyoxylate aminotransferase gene. The patient underwent simultaneous kidney liver transplant. The second and third cases, 26 and 28 year old women respectively, were asymptomatic siblings of the first patient, who were diagnosed through screening. The fourth case is a 12 year boy with PH type 1 presenting as nephrolithiasis and rapidly worsening kidney function requiring combined kidney liver kidney transplant. Case 5 is a 6 year old male child with type 2 PH presenting with nephrolithiasis, nephrocalcinosis and normal kidney function. All the patients were born to consanguineous parents. CONCLUSIONS: Due to limited clinical suspicion and inadequate diagnostic resources in certain countries with limited resources, it is possible for PH to go undiagnosed. The manifestations of the disease can range from no noticeable symptoms to severe disease. Interestingly, in some individuals with primary hyperoxaluria, the disease may not exhibit any symptoms until it is triggered by a high intake of dietary oxalate.

Norethisterone-Induced Liver Injury and a Short Survey Among Gynecologists.

Norethisterone, a commonly used oral contraceptive, and treatment for various gynecological disorders such as menorrhagia, abnormal uterine bleeding, and breast cancer, has been associated with multiple liver injuries. These injuries can manifest as hepatitis or cholestatic types of injury, benign neoplasms, peliosis hepatis, sinusoidal obstruction syndrome, and enlargement of existing hemangiomas. This report presents three cases in which liver enzyme levels were elevated due to norethisterone intake. Two of the cases were individuals undergoing evaluation as potential kidney donors in the nephrology department for their spouses, while the third case involved a patient with chronic kidney disease (CKD) stage-5 on maintenance hemodialysis. Regular follow-up of these patients, particularly due to the significance of two being kidney donors and one having advanced CKD, allowed for early detection of asymptomatic liver enzyme elevation and prompt discontinuation of norethisterone. Prescribing norethisterone is common in gynecological settings, including ours. To assess gynecologists' knowledge regarding norethisterone-related side effects, we conducted an online survey, the results of which are discussed in this report.

Ambulatory Blood Pressure Monitoring versus Office Blood Pressure Monitoring to Identify the True Hypertension Status of Living Kidney Donors.

Ambulatory blood pressure monitoring (ABPM) is a reliable modality and is preferred over office blood pressure monitoring (OBPM) for detecting hypertension. However, despite its advantages, the utilization of 24-h ABPM in evaluating living kidney donors has not been universally adopted by transplant centers, partly because of the lack of data about the utility of ABPM. This study aimed to identify patients with masked and white-coat hypertension, thereby ensuring appropriate identification of their true hypertension status and assessments of the risk to donors. This study included 73 potential living kidney donors. BP was measured in the office using a standardized protocol as well as by ABPM. Detailed clinical and biochemical parameters were assessed. Target organ damage was assessed in all the donors by assessing proteinuria, hypertensive retinopathy, and echocardiography. Out of the 73 donors, 64.4% were females and 35.6% were males. The average age of individuals in our donor population was 42.0 ± 11.28 years. In total, 31.5% were detected to be hypertensive by OBPM. With ABPM, only 21.9% of donors were hypertensive. The overall prevalence of white-coat hypertension was 30.4%; that of masked hypertension was 6.0%. In donors diagnosed as hypertensive by OBPM, three individuals were identified as having target organ damage. However, two additional donors who were initially missed as hypertensive using OBPM had target organ damage. OBPM overestimated the prevalence of hypertension compared with ABPM. ABPM is the better modality in terms of diagnosing white coats and masked hypertension. ABPM also more reliably correlates with target organ damage than OBPM.